SNP Links for Protein (Select 767904241) - SNP

Links from Protein

Items: 1 to 20 of 300

<< First< Prev

Page of 15

Next >Last >>

Select item 14884107331.

rs1488410733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:111982279 (GRCh38)
1:112524901 (GRCh37)
Canonical SPDI:: NC_000001.11:111982278:C:G,NC_000001.11:111982278:C:T
Gene:: KCND3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111982279C>G, NC_000001.11:g.111982279C>T, NC_000001.10:g.112524901C>G, NC_000001.10:g.112524901C>T, NG_032011.2:g.11877G>C, NG_032011.2:g.11877G>A, NM_004980.5:c.448G>C, NM_004980.5:c.448G>A, NM_004980.4:c.448G>C, NM_004980.4:c.448G>A, NM_172198.3:c.448G>C, NM_172198.3:c.448G>A, NM_172198.2:c.448G>C, NM_172198.2:c.448G>A, NM_001378969.1:c.448G>C, NM_001378969.1:c.448G>A, NM_001378970.1:c.448G>C, NM_001378970.1:c.448G>A, XM_006710629.5:c.448G>C, XM_006710629.5:c.448G>A, XM_006710629.4:c.448G>C, XM_006710629.4:c.448G>A, XM_006710629.3:c.448G>C, XM_006710629.3:c.448G>A, XM_006710629.2:c.448G>C, XM_006710629.2:c.448G>A, XM_006710629.1:c.448G>C, XM_006710629.1:c.448G>A, XM_011541427.4:c.448G>C, XM_011541427.4:c.448G>A, XM_011541427.3:c.448G>C, XM_011541427.3:c.448G>A, XM_011541427.2:c.448G>C, XM_011541427.2:c.448G>A, XM_011541427.1:c.448G>C, XM_011541427.1:c.448G>A, XM_011541425.4:c.448G>C, XM_011541425.4:c.448G>A, XM_011541425.3:c.448G>C, XM_011541425.3:c.448G>A, XM_011541425.2:c.448G>C, XM_011541425.2:c.448G>A, XM_011541425.1:c.448G>C, XM_011541425.1:c.448G>A, XM_006710632.4:c.448G>C, XM_006710632.4:c.448G>A, XM_006710632.3:c.448G>C, XM_006710632.3:c.448G>A, XM_006710632.2:c.448G>C, XM_006710632.2:c.448G>A, XM_006710632.1:c.448G>C, XM_006710632.1:c.448G>A, XM_017001244.3:c.448G>C, XM_017001244.3:c.448G>A, XM_017001244.2:c.448G>C, XM_017001244.2:c.448G>A, XM_017001244.1:c.448G>C, XM_017001244.1:c.448G>A, XM_017001245.3:c.448G>C, XM_017001245.3:c.448G>A, XM_017001245.2:c.448G>C, XM_017001245.2:c.448G>A, XM_017001245.1:c.448G>C, XM_017001245.1:c.448G>A, XM_011541426.3:c.448G>C, XM_011541426.3:c.448G>A, XM_011541426.2:c.448G>C, XM_011541426.2:c.448G>A, XM_011541426.1:c.448G>C, XM_011541426.1:c.448G>A, XM_011541428.3:c.448G>C, XM_011541428.3:c.448G>A, XM_011541428.2:c.448G>C, XM_011541428.2:c.448G>A, XM_011541428.1:c.448G>C, XM_011541428.1:c.448G>A, NP_004971.2:p.Asp150His, NP_004971.2:p.Asp150Asn, NP_751948.1:p.Asp150His, NP_751948.1:p.Asp150Asn, NP_001365898.1:p.Asp150His, NP_001365898.1:p.Asp150Asn, NP_001365899.1:p.Asp150His, NP_001365899.1:p.Asp150Asn, XP_006710692.1:p.Asp150His, XP_006710692.1:p.Asp150Asn, XP_011539729.1:p.Asp150His, XP_011539729.1:p.Asp150Asn, XP_011539727.1:p.Asp150His, XP_011539727.1:p.Asp150Asn, XP_006710695.1:p.Asp150His, XP_006710695.1:p.Asp150Asn, XP_016856733.1:p.Asp150His, XP_016856733.1:p.Asp150Asn, XP_016856734.1:p.Asp150His, XP_016856734.1:p.Asp150Asn, XP_011539728.1:p.Asp150His, XP_011539728.1:p.Asp150Asn, XP_011539730.1:p.Asp150His, XP_011539730.1:p.Asp150Asn

Select item 14869126042.

rs1486912604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:111976927 (GRCh38)
1:112519549 (GRCh37)
Canonical SPDI:: NC_000001.11:111976926:C:G
Gene:: KCND3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.111976927C>G, NC_000001.10:g.112519549C>G, NG_032011.2:g.17229G>C, XM_011541425.4:c.1188G>C, XM_011541425.3:c.1188G>C, XM_011541425.2:c.1188G>C, XM_011541425.1:c.1188G>C, XM_017001245.3:c.1188G>C, XM_017001245.2:c.1188G>C, XM_017001245.1:c.1188G>C, XP_011539727.1:p.Glu396Asp, XP_016856734.1:p.Glu396Asp

Select item 14835905213.

rs1483590521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111982027 (GRCh38)
1:112524649 (GRCh37)
Canonical SPDI:: NC_000001.11:111982026:C:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000001.11:g.111982027C>T, NC_000001.10:g.112524649C>T, NG_032011.2:g.12129G>A, NM_004980.5:c.700G>A, NM_004980.4:c.700G>A, NM_172198.3:c.700G>A, NM_172198.2:c.700G>A, NM_001378969.1:c.700G>A, NM_001378970.1:c.700G>A, XM_006710629.5:c.700G>A, XM_006710629.4:c.700G>A, XM_006710629.3:c.700G>A, XM_006710629.2:c.700G>A, XM_006710629.1:c.700G>A, XM_011541427.4:c.700G>A, XM_011541427.3:c.700G>A, XM_011541427.2:c.700G>A, XM_011541427.1:c.700G>A, XM_011541425.4:c.700G>A, XM_011541425.3:c.700G>A, XM_011541425.2:c.700G>A, XM_011541425.1:c.700G>A, XM_006710632.4:c.700G>A, XM_006710632.3:c.700G>A, XM_006710632.2:c.700G>A, XM_006710632.1:c.700G>A, XM_017001244.3:c.700G>A, XM_017001244.2:c.700G>A, XM_017001244.1:c.700G>A, XM_017001245.3:c.700G>A, XM_017001245.2:c.700G>A, XM_017001245.1:c.700G>A, XM_011541426.3:c.700G>A, XM_011541426.2:c.700G>A, XM_011541426.1:c.700G>A, XM_011541428.3:c.700G>A, XM_011541428.2:c.700G>A, XM_011541428.1:c.700G>A, NP_004971.2:p.Val234Ile, NP_751948.1:p.Val234Ile, NP_001365898.1:p.Val234Ile, NP_001365899.1:p.Val234Ile, XP_006710692.1:p.Val234Ile, XP_011539729.1:p.Val234Ile, XP_011539727.1:p.Val234Ile, XP_006710695.1:p.Val234Ile, XP_016856733.1:p.Val234Ile, XP_016856734.1:p.Val234Ile, XP_011539728.1:p.Val234Ile, XP_011539730.1:p.Val234Ile

Select item 14779709274.

rs1477970927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:111982216 (GRCh38)
1:112524838 (GRCh37)
Canonical SPDI:: NC_000001.11:111982215:G:A,NC_000001.11:111982215:G:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111982216G>A, NC_000001.11:g.111982216G>T, NC_000001.10:g.112524838G>A, NC_000001.10:g.112524838G>T, NG_032011.2:g.11940C>T, NG_032011.2:g.11940C>A, NM_004980.5:c.511C>T, NM_004980.5:c.511C>A, NM_004980.4:c.511C>T, NM_004980.4:c.511C>A, NM_172198.3:c.511C>T, NM_172198.3:c.511C>A, NM_172198.2:c.511C>T, NM_172198.2:c.511C>A, NM_001378969.1:c.511C>T, NM_001378969.1:c.511C>A, NM_001378970.1:c.511C>T, NM_001378970.1:c.511C>A, XM_006710629.5:c.511C>T, XM_006710629.5:c.511C>A, XM_006710629.4:c.511C>T, XM_006710629.4:c.511C>A, XM_006710629.3:c.511C>T, XM_006710629.3:c.511C>A, XM_006710629.2:c.511C>T, XM_006710629.2:c.511C>A, XM_006710629.1:c.511C>T, XM_006710629.1:c.511C>A, XM_011541427.4:c.511C>T, XM_011541427.4:c.511C>A, XM_011541427.3:c.511C>T, XM_011541427.3:c.511C>A, XM_011541427.2:c.511C>T, XM_011541427.2:c.511C>A, XM_011541427.1:c.511C>T, XM_011541427.1:c.511C>A, XM_011541425.4:c.511C>T, XM_011541425.4:c.511C>A, XM_011541425.3:c.511C>T, XM_011541425.3:c.511C>A, XM_011541425.2:c.511C>T, XM_011541425.2:c.511C>A, XM_011541425.1:c.511C>T, XM_011541425.1:c.511C>A, XM_006710632.4:c.511C>T, XM_006710632.4:c.511C>A, XM_006710632.3:c.511C>T, XM_006710632.3:c.511C>A, XM_006710632.2:c.511C>T, XM_006710632.2:c.511C>A, XM_006710632.1:c.511C>T, XM_006710632.1:c.511C>A, XM_017001244.3:c.511C>T, XM_017001244.3:c.511C>A, XM_017001244.2:c.511C>T, XM_017001244.2:c.511C>A, XM_017001244.1:c.511C>T, XM_017001244.1:c.511C>A, XM_017001245.3:c.511C>T, XM_017001245.3:c.511C>A, XM_017001245.2:c.511C>T, XM_017001245.2:c.511C>A, XM_017001245.1:c.511C>T, XM_017001245.1:c.511C>A, XM_011541426.3:c.511C>T, XM_011541426.3:c.511C>A, XM_011541426.2:c.511C>T, XM_011541426.2:c.511C>A, XM_011541426.1:c.511C>T, XM_011541426.1:c.511C>A, XM_011541428.3:c.511C>T, XM_011541428.3:c.511C>A, XM_011541428.2:c.511C>T, XM_011541428.2:c.511C>A, XM_011541428.1:c.511C>T, XM_011541428.1:c.511C>A, NP_004971.2:p.Arg171Trp, NP_751948.1:p.Arg171Trp, NP_001365898.1:p.Arg171Trp, NP_001365899.1:p.Arg171Trp, XP_006710692.1:p.Arg171Trp, XP_011539729.1:p.Arg171Trp, XP_011539727.1:p.Arg171Trp, XP_006710695.1:p.Arg171Trp, XP_016856733.1:p.Arg171Trp, XP_016856734.1:p.Arg171Trp, XP_011539728.1:p.Arg171Trp, XP_011539730.1:p.Arg171Trp

Select item 14672568465.

rs1467256846 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:111981662 (GRCh38)
1:112524284 (GRCh37)
Canonical SPDI:: NC_000001.11:111981661:A:G,NC_000001.11:111981661:A:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
HGVS:: NC_000001.11:g.111981662A>G, NC_000001.11:g.111981662A>T, NC_000001.10:g.112524284A>G, NC_000001.10:g.112524284A>T, NG_032011.2:g.12494T>C, NG_032011.2:g.12494T>A, NM_004980.5:c.1065T>C, NM_004980.5:c.1065T>A, NM_004980.4:c.1065T>C, NM_004980.4:c.1065T>A, NM_172198.3:c.1065T>C, NM_172198.3:c.1065T>A, NM_172198.2:c.1065T>C, NM_172198.2:c.1065T>A, NM_001378969.1:c.1065T>C, NM_001378969.1:c.1065T>A, NM_001378970.1:c.1065T>C, NM_001378970.1:c.1065T>A, XM_006710629.5:c.1065T>C, XM_006710629.5:c.1065T>A, XM_006710629.4:c.1065T>C, XM_006710629.4:c.1065T>A, XM_006710629.3:c.1065T>C, XM_006710629.3:c.1065T>A, XM_006710629.2:c.1065T>C, XM_006710629.2:c.1065T>A, XM_006710629.1:c.1065T>C, XM_006710629.1:c.1065T>A, XM_011541427.4:c.1065T>C, XM_011541427.4:c.1065T>A, XM_011541427.3:c.1065T>C, XM_011541427.3:c.1065T>A, XM_011541427.2:c.1065T>C, XM_011541427.2:c.1065T>A, XM_011541427.1:c.1065T>C, XM_011541427.1:c.1065T>A, XM_011541425.4:c.1065T>C, XM_011541425.4:c.1065T>A, XM_011541425.3:c.1065T>C, XM_011541425.3:c.1065T>A, XM_011541425.2:c.1065T>C, XM_011541425.2:c.1065T>A, XM_011541425.1:c.1065T>C, XM_011541425.1:c.1065T>A, XM_006710632.4:c.1065T>C, XM_006710632.4:c.1065T>A, XM_006710632.3:c.1065T>C, XM_006710632.3:c.1065T>A, XM_006710632.2:c.1065T>C, XM_006710632.2:c.1065T>A, XM_006710632.1:c.1065T>C, XM_006710632.1:c.1065T>A, XM_017001244.3:c.1065T>C, XM_017001244.3:c.1065T>A, XM_017001244.2:c.1065T>C, XM_017001244.2:c.1065T>A, XM_017001244.1:c.1065T>C, XM_017001244.1:c.1065T>A, XM_017001245.3:c.1065T>C, XM_017001245.3:c.1065T>A, XM_017001245.2:c.1065T>C, XM_017001245.2:c.1065T>A, XM_017001245.1:c.1065T>C, XM_017001245.1:c.1065T>A, XM_011541426.3:c.1065T>C, XM_011541426.3:c.1065T>A, XM_011541426.2:c.1065T>C, XM_011541426.2:c.1065T>A, XM_011541426.1:c.1065T>C, XM_011541426.1:c.1065T>A, XM_011541428.3:c.1065T>C, XM_011541428.3:c.1065T>A, XM_011541428.2:c.1065T>C, XM_011541428.2:c.1065T>A, XM_011541428.1:c.1065T>C, XM_011541428.1:c.1065T>A

Select item 14615969536.

rs1461596953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:111976940 (GRCh38)
1:112519562 (GRCh37)
Canonical SPDI:: NC_000001.11:111976939:G:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111976940G>T, NC_000001.10:g.112519562G>T, NG_032011.2:g.17216C>A, XM_011541425.4:c.1175C>A, XM_011541425.3:c.1175C>A, XM_011541425.2:c.1175C>A, XM_011541425.1:c.1175C>A, XM_017001245.3:c.1175C>A, XM_017001245.2:c.1175C>A, XM_017001245.1:c.1175C>A, XP_011539727.1:p.Ser392Ter, XP_016856734.1:p.Ser392Ter

Select item 14525338467.

rs1452533846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111982065 (GRCh38)
1:112524687 (GRCh37)
Canonical SPDI:: NC_000001.11:111982064:C:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111982065C>T, NC_000001.10:g.112524687C>T, NG_032011.2:g.12091G>A, NM_004980.5:c.662G>A, NM_004980.4:c.662G>A, NM_172198.3:c.662G>A, NM_172198.2:c.662G>A, NM_001378969.1:c.662G>A, NM_001378970.1:c.662G>A, XM_006710629.5:c.662G>A, XM_006710629.4:c.662G>A, XM_006710629.3:c.662G>A, XM_006710629.2:c.662G>A, XM_006710629.1:c.662G>A, XM_011541427.4:c.662G>A, XM_011541427.3:c.662G>A, XM_011541427.2:c.662G>A, XM_011541427.1:c.662G>A, XM_011541425.4:c.662G>A, XM_011541425.3:c.662G>A, XM_011541425.2:c.662G>A, XM_011541425.1:c.662G>A, XM_006710632.4:c.662G>A, XM_006710632.3:c.662G>A, XM_006710632.2:c.662G>A, XM_006710632.1:c.662G>A, XM_017001244.3:c.662G>A, XM_017001244.2:c.662G>A, XM_017001244.1:c.662G>A, XM_017001245.3:c.662G>A, XM_017001245.2:c.662G>A, XM_017001245.1:c.662G>A, XM_011541426.3:c.662G>A, XM_011541426.2:c.662G>A, XM_011541426.1:c.662G>A, XM_011541428.3:c.662G>A, XM_011541428.2:c.662G>A, XM_011541428.1:c.662G>A, NP_004971.2:p.Arg221His, NP_751948.1:p.Arg221His, NP_001365898.1:p.Arg221His, NP_001365899.1:p.Arg221His, XP_006710692.1:p.Arg221His, XP_011539729.1:p.Arg221His, XP_011539727.1:p.Arg221His, XP_006710695.1:p.Arg221His, XP_016856733.1:p.Arg221His, XP_016856734.1:p.Arg221His, XP_011539728.1:p.Arg221His, XP_011539730.1:p.Arg221His

Select item 14511575308.

rs1451157530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:111981975 (GRCh38)
1:112524597 (GRCh37)
Canonical SPDI:: NC_000001.11:111981974:C:A
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111981975C>A, NC_000001.10:g.112524597C>A, NG_032011.2:g.12181G>T, NM_004980.5:c.752G>T, NM_004980.4:c.752G>T, NM_172198.3:c.752G>T, NM_172198.2:c.752G>T, NM_001378969.1:c.752G>T, NM_001378970.1:c.752G>T, XM_006710629.5:c.752G>T, XM_006710629.4:c.752G>T, XM_006710629.3:c.752G>T, XM_006710629.2:c.752G>T, XM_006710629.1:c.752G>T, XM_011541427.4:c.752G>T, XM_011541427.3:c.752G>T, XM_011541427.2:c.752G>T, XM_011541427.1:c.752G>T, XM_011541425.4:c.752G>T, XM_011541425.3:c.752G>T, XM_011541425.2:c.752G>T, XM_011541425.1:c.752G>T, XM_006710632.4:c.752G>T, XM_006710632.3:c.752G>T, XM_006710632.2:c.752G>T, XM_006710632.1:c.752G>T, XM_017001244.3:c.752G>T, XM_017001244.2:c.752G>T, XM_017001244.1:c.752G>T, XM_017001245.3:c.752G>T, XM_017001245.2:c.752G>T, XM_017001245.1:c.752G>T, XM_011541426.3:c.752G>T, XM_011541426.2:c.752G>T, XM_011541426.1:c.752G>T, XM_011541428.3:c.752G>T, XM_011541428.2:c.752G>T, XM_011541428.1:c.752G>T, NP_004971.2:p.Arg251Leu, NP_751948.1:p.Arg251Leu, NP_001365898.1:p.Arg251Leu, NP_001365899.1:p.Arg251Leu, XP_006710692.1:p.Arg251Leu, XP_011539729.1:p.Arg251Leu, XP_011539727.1:p.Arg251Leu, XP_006710695.1:p.Arg251Leu, XP_016856733.1:p.Arg251Leu, XP_016856734.1:p.Arg251Leu, XP_011539728.1:p.Arg251Leu, XP_011539730.1:p.Arg251Leu

Select item 14493438939.

rs1449343893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111982597 (GRCh38)
1:112525219 (GRCh37)
Canonical SPDI:: NC_000001.11:111982596:G:A
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111982597G>A, NC_000001.10:g.112525219G>A, NG_032011.2:g.11559C>T, NM_004980.5:c.130C>T, NM_004980.4:c.130C>T, NM_172198.3:c.130C>T, NM_172198.2:c.130C>T, NM_001378969.1:c.130C>T, NM_001378970.1:c.130C>T, XM_006710629.5:c.130C>T, XM_006710629.4:c.130C>T, XM_006710629.3:c.130C>T, XM_006710629.2:c.130C>T, XM_006710629.1:c.130C>T, XM_011541427.4:c.130C>T, XM_011541427.3:c.130C>T, XM_011541427.2:c.130C>T, XM_011541427.1:c.130C>T, XM_011541425.4:c.130C>T, XM_011541425.3:c.130C>T, XM_011541425.2:c.130C>T, XM_011541425.1:c.130C>T, XM_006710632.4:c.130C>T, XM_006710632.3:c.130C>T, XM_006710632.2:c.130C>T, XM_006710632.1:c.130C>T, XM_017001244.3:c.130C>T, XM_017001244.2:c.130C>T, XM_017001244.1:c.130C>T, XM_017001245.3:c.130C>T, XM_017001245.2:c.130C>T, XM_017001245.1:c.130C>T, XM_011541426.3:c.130C>T, XM_011541426.2:c.130C>T, XM_011541426.1:c.130C>T, XM_011541428.3:c.130C>T, XM_011541428.2:c.130C>T, XM_011541428.1:c.130C>T, NP_004971.2:p.Leu44Phe, NP_751948.1:p.Leu44Phe, NP_001365898.1:p.Leu44Phe, NP_001365899.1:p.Leu44Phe, XP_006710692.1:p.Leu44Phe, XP_011539729.1:p.Leu44Phe, XP_011539727.1:p.Leu44Phe, XP_006710695.1:p.Leu44Phe, XP_016856733.1:p.Leu44Phe, XP_016856734.1:p.Leu44Phe, XP_011539728.1:p.Leu44Phe, XP_011539730.1:p.Leu44Phe

Select item 144775894410.

rs1447758944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:111976986 (GRCh38)
1:112519608 (GRCh37)
Canonical SPDI:: NC_000001.11:111976985:T:G
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111976986T>G, NC_000001.10:g.112519608T>G, NG_032011.2:g.17170A>C, XM_011541425.4:c.1129A>C, XM_011541425.3:c.1129A>C, XM_011541425.2:c.1129A>C, XM_011541425.1:c.1129A>C, XM_017001245.3:c.1129A>C, XM_017001245.2:c.1129A>C, XM_017001245.1:c.1129A>C

Select item 144703382611.

rs1447033826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:111982298 (GRCh38)
1:112524920 (GRCh37)
Canonical SPDI:: NC_000001.11:111982297:G:A,NC_000001.11:111982297:G:C
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.111982298G>A, NC_000001.11:g.111982298G>C, NC_000001.10:g.112524920G>A, NC_000001.10:g.112524920G>C, NG_032011.2:g.11858C>T, NG_032011.2:g.11858C>G, NM_004980.5:c.429C>T, NM_004980.5:c.429C>G, NM_004980.4:c.429C>T, NM_004980.4:c.429C>G, NM_172198.3:c.429C>T, NM_172198.3:c.429C>G, NM_172198.2:c.429C>T, NM_172198.2:c.429C>G, NM_001378969.1:c.429C>T, NM_001378969.1:c.429C>G, NM_001378970.1:c.429C>T, NM_001378970.1:c.429C>G, XM_006710629.5:c.429C>T, XM_006710629.5:c.429C>G, XM_006710629.4:c.429C>T, XM_006710629.4:c.429C>G, XM_006710629.3:c.429C>T, XM_006710629.3:c.429C>G, XM_006710629.2:c.429C>T, XM_006710629.2:c.429C>G, XM_006710629.1:c.429C>T, XM_006710629.1:c.429C>G, XM_011541427.4:c.429C>T, XM_011541427.4:c.429C>G, XM_011541427.3:c.429C>T, XM_011541427.3:c.429C>G, XM_011541427.2:c.429C>T, XM_011541427.2:c.429C>G, XM_011541427.1:c.429C>T, XM_011541427.1:c.429C>G, XM_011541425.4:c.429C>T, XM_011541425.4:c.429C>G, XM_011541425.3:c.429C>T, XM_011541425.3:c.429C>G, XM_011541425.2:c.429C>T, XM_011541425.2:c.429C>G, XM_011541425.1:c.429C>T, XM_011541425.1:c.429C>G, XM_006710632.4:c.429C>T, XM_006710632.4:c.429C>G, XM_006710632.3:c.429C>T, XM_006710632.3:c.429C>G, XM_006710632.2:c.429C>T, XM_006710632.2:c.429C>G, XM_006710632.1:c.429C>T, XM_006710632.1:c.429C>G, XM_017001244.3:c.429C>T, XM_017001244.3:c.429C>G, XM_017001244.2:c.429C>T, XM_017001244.2:c.429C>G, XM_017001244.1:c.429C>T, XM_017001244.1:c.429C>G, XM_017001245.3:c.429C>T, XM_017001245.3:c.429C>G, XM_017001245.2:c.429C>T, XM_017001245.2:c.429C>G, XM_017001245.1:c.429C>T, XM_017001245.1:c.429C>G, XM_011541426.3:c.429C>T, XM_011541426.3:c.429C>G, XM_011541426.2:c.429C>T, XM_011541426.2:c.429C>G, XM_011541426.1:c.429C>T, XM_011541426.1:c.429C>G, XM_011541428.3:c.429C>T, XM_011541428.3:c.429C>G, XM_011541428.2:c.429C>T, XM_011541428.2:c.429C>G, XM_011541428.1:c.429C>T, XM_011541428.1:c.429C>G, NP_004971.2:p.Asn143Lys, NP_751948.1:p.Asn143Lys, NP_001365898.1:p.Asn143Lys, NP_001365899.1:p.Asn143Lys, XP_006710692.1:p.Asn143Lys, XP_011539729.1:p.Asn143Lys, XP_011539727.1:p.Asn143Lys, XP_006710695.1:p.Asn143Lys, XP_016856733.1:p.Asn143Lys, XP_016856734.1:p.Asn143Lys, XP_011539728.1:p.Asn143Lys, XP_011539730.1:p.Asn143Lys

Select item 144413450212.

rs1444134502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111982432 (GRCh38)
1:112525054 (GRCh37)
Canonical SPDI:: NC_000001.11:111982431:G:A
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111982432G>A, NC_000001.10:g.112525054G>A, NG_032011.2:g.11724C>T, NM_004980.5:c.295C>T, NM_004980.4:c.295C>T, NM_172198.3:c.295C>T, NM_172198.2:c.295C>T, NM_001378969.1:c.295C>T, NM_001378970.1:c.295C>T, XM_006710629.5:c.295C>T, XM_006710629.4:c.295C>T, XM_006710629.3:c.295C>T, XM_006710629.2:c.295C>T, XM_006710629.1:c.295C>T, XM_011541427.4:c.295C>T, XM_011541427.3:c.295C>T, XM_011541427.2:c.295C>T, XM_011541427.1:c.295C>T, XM_011541425.4:c.295C>T, XM_011541425.3:c.295C>T, XM_011541425.2:c.295C>T, XM_011541425.1:c.295C>T, XM_006710632.4:c.295C>T, XM_006710632.3:c.295C>T, XM_006710632.2:c.295C>T, XM_006710632.1:c.295C>T, XM_017001244.3:c.295C>T, XM_017001244.2:c.295C>T, XM_017001244.1:c.295C>T, XM_017001245.3:c.295C>T, XM_017001245.2:c.295C>T, XM_017001245.1:c.295C>T, XM_011541426.3:c.295C>T, XM_011541426.2:c.295C>T, XM_011541426.1:c.295C>T, XM_011541428.3:c.295C>T, XM_011541428.2:c.295C>T, XM_011541428.1:c.295C>T, NP_004971.2:p.Arg99Cys, NP_751948.1:p.Arg99Cys, NP_001365898.1:p.Arg99Cys, NP_001365899.1:p.Arg99Cys, XP_006710692.1:p.Arg99Cys, XP_011539729.1:p.Arg99Cys, XP_011539727.1:p.Arg99Cys, XP_006710695.1:p.Arg99Cys, XP_016856733.1:p.Arg99Cys, XP_016856734.1:p.Arg99Cys, XP_011539728.1:p.Arg99Cys, XP_011539730.1:p.Arg99Cys

Select item 144398585713.

rs1443985857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111981960 (GRCh38)
1:112524582 (GRCh37)
Canonical SPDI:: NC_000001.11:111981959:C:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111981960C>T, NC_000001.10:g.112524582C>T, NG_032011.2:g.12196G>A, NM_004980.5:c.767G>A, NM_004980.4:c.767G>A, NM_172198.3:c.767G>A, NM_172198.2:c.767G>A, NM_001378969.1:c.767G>A, NM_001378970.1:c.767G>A, XM_006710629.5:c.767G>A, XM_006710629.4:c.767G>A, XM_006710629.3:c.767G>A, XM_006710629.2:c.767G>A, XM_006710629.1:c.767G>A, XM_011541427.4:c.767G>A, XM_011541427.3:c.767G>A, XM_011541427.2:c.767G>A, XM_011541427.1:c.767G>A, XM_011541425.4:c.767G>A, XM_011541425.3:c.767G>A, XM_011541425.2:c.767G>A, XM_011541425.1:c.767G>A, XM_006710632.4:c.767G>A, XM_006710632.3:c.767G>A, XM_006710632.2:c.767G>A, XM_006710632.1:c.767G>A, XM_017001244.3:c.767G>A, XM_017001244.2:c.767G>A, XM_017001244.1:c.767G>A, XM_017001245.3:c.767G>A, XM_017001245.2:c.767G>A, XM_017001245.1:c.767G>A, XM_011541426.3:c.767G>A, XM_011541426.2:c.767G>A, XM_011541426.1:c.767G>A, XM_011541428.3:c.767G>A, XM_011541428.2:c.767G>A, XM_011541428.1:c.767G>A, NP_004971.2:p.Arg256His, NP_751948.1:p.Arg256His, NP_001365898.1:p.Arg256His, NP_001365899.1:p.Arg256His, XP_006710692.1:p.Arg256His, XP_011539729.1:p.Arg256His, XP_011539727.1:p.Arg256His, XP_006710695.1:p.Arg256His, XP_016856733.1:p.Arg256His, XP_016856734.1:p.Arg256His, XP_011539728.1:p.Arg256His, XP_011539730.1:p.Arg256His

Select item 144297107814.

rs1442971078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111982517 (GRCh38)
1:112525139 (GRCh37)
Canonical SPDI:: NC_000001.11:111982516:C:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.111982517C>T, NC_000001.10:g.112525139C>T, NG_032011.2:g.11639G>A, NM_004980.5:c.210G>A, NM_004980.4:c.210G>A, NM_172198.3:c.210G>A, NM_172198.2:c.210G>A, NM_001378969.1:c.210G>A, NM_001378970.1:c.210G>A, XM_006710629.5:c.210G>A, XM_006710629.4:c.210G>A, XM_006710629.3:c.210G>A, XM_006710629.2:c.210G>A, XM_006710629.1:c.210G>A, XM_011541427.4:c.210G>A, XM_011541427.3:c.210G>A, XM_011541427.2:c.210G>A, XM_011541427.1:c.210G>A, XM_011541425.4:c.210G>A, XM_011541425.3:c.210G>A, XM_011541425.2:c.210G>A, XM_011541425.1:c.210G>A, XM_006710632.4:c.210G>A, XM_006710632.3:c.210G>A, XM_006710632.2:c.210G>A, XM_006710632.1:c.210G>A, XM_017001244.3:c.210G>A, XM_017001244.2:c.210G>A, XM_017001244.1:c.210G>A, XM_017001245.3:c.210G>A, XM_017001245.2:c.210G>A, XM_017001245.1:c.210G>A, XM_011541426.3:c.210G>A, XM_011541426.2:c.210G>A, XM_011541426.1:c.210G>A, XM_011541428.3:c.210G>A, XM_011541428.2:c.210G>A, XM_011541428.1:c.210G>A

Select item 144292144815.

rs1442921448 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:111982496 (GRCh38)
1:112525118 (GRCh37)
Canonical SPDI:: NC_000001.11:111982495:C:A
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111982496C>A, NC_000001.10:g.112525118C>A, NG_032011.2:g.11660G>T, NM_004980.5:c.231G>T, NM_004980.4:c.231G>T, NM_172198.3:c.231G>T, NM_172198.2:c.231G>T, NM_001378969.1:c.231G>T, NM_001378970.1:c.231G>T, XM_006710629.5:c.231G>T, XM_006710629.4:c.231G>T, XM_006710629.3:c.231G>T, XM_006710629.2:c.231G>T, XM_006710629.1:c.231G>T, XM_011541427.4:c.231G>T, XM_011541427.3:c.231G>T, XM_011541427.2:c.231G>T, XM_011541427.1:c.231G>T, XM_011541425.4:c.231G>T, XM_011541425.3:c.231G>T, XM_011541425.2:c.231G>T, XM_011541425.1:c.231G>T, XM_006710632.4:c.231G>T, XM_006710632.3:c.231G>T, XM_006710632.2:c.231G>T, XM_006710632.1:c.231G>T, XM_017001244.3:c.231G>T, XM_017001244.2:c.231G>T, XM_017001244.1:c.231G>T, XM_017001245.3:c.231G>T, XM_017001245.2:c.231G>T, XM_017001245.1:c.231G>T, XM_011541426.3:c.231G>T, XM_011541426.2:c.231G>T, XM_011541426.1:c.231G>T, XM_011541428.3:c.231G>T, XM_011541428.2:c.231G>T, XM_011541428.1:c.231G>T, NP_004971.2:p.Glu77Asp, NP_751948.1:p.Glu77Asp, NP_001365898.1:p.Glu77Asp, NP_001365899.1:p.Glu77Asp, XP_006710692.1:p.Glu77Asp, XP_011539729.1:p.Glu77Asp, XP_011539727.1:p.Glu77Asp, XP_006710695.1:p.Glu77Asp, XP_016856733.1:p.Glu77Asp, XP_016856734.1:p.Glu77Asp, XP_011539728.1:p.Glu77Asp, XP_011539730.1:p.Glu77Asp

Select item 144070188216.

rs1440701882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111982139 (GRCh38)
1:112524761 (GRCh37)
Canonical SPDI:: NC_000001.11:111982138:C:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111982139C>T, NC_000001.10:g.112524761C>T, NG_032011.2:g.12017G>A, NM_004980.5:c.588G>A, NM_004980.4:c.588G>A, NM_172198.3:c.588G>A, NM_172198.2:c.588G>A, NM_001378969.1:c.588G>A, NM_001378970.1:c.588G>A, XM_006710629.5:c.588G>A, XM_006710629.4:c.588G>A, XM_006710629.3:c.588G>A, XM_006710629.2:c.588G>A, XM_006710629.1:c.588G>A, XM_011541427.4:c.588G>A, XM_011541427.3:c.588G>A, XM_011541427.2:c.588G>A, XM_011541427.1:c.588G>A, XM_011541425.4:c.588G>A, XM_011541425.3:c.588G>A, XM_011541425.2:c.588G>A, XM_011541425.1:c.588G>A, XM_006710632.4:c.588G>A, XM_006710632.3:c.588G>A, XM_006710632.2:c.588G>A, XM_006710632.1:c.588G>A, XM_017001244.3:c.588G>A, XM_017001244.2:c.588G>A, XM_017001244.1:c.588G>A, XM_017001245.3:c.588G>A, XM_017001245.2:c.588G>A, XM_017001245.1:c.588G>A, XM_011541426.3:c.588G>A, XM_011541426.2:c.588G>A, XM_011541426.1:c.588G>A, XM_011541428.3:c.588G>A, XM_011541428.2:c.588G>A, XM_011541428.1:c.588G>A

Select item 143870524717.

rs1438705247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:111982487 (GRCh38)
1:112525109 (GRCh37)
Canonical SPDI:: NC_000001.11:111982486:C:G,NC_000001.11:111982486:C:T
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111982487C>G, NC_000001.11:g.111982487C>T, NC_000001.10:g.112525109C>G, NC_000001.10:g.112525109C>T, NG_032011.2:g.11669G>C, NG_032011.2:g.11669G>A, NM_004980.5:c.240G>C, NM_004980.5:c.240G>A, NM_004980.4:c.240G>C, NM_004980.4:c.240G>A, NM_172198.3:c.240G>C, NM_172198.3:c.240G>A, NM_172198.2:c.240G>C, NM_172198.2:c.240G>A, NM_001378969.1:c.240G>C, NM_001378969.1:c.240G>A, NM_001378970.1:c.240G>C, NM_001378970.1:c.240G>A, XM_006710629.5:c.240G>C, XM_006710629.5:c.240G>A, XM_006710629.4:c.240G>C, XM_006710629.4:c.240G>A, XM_006710629.3:c.240G>C, XM_006710629.3:c.240G>A, XM_006710629.2:c.240G>C, XM_006710629.2:c.240G>A, XM_006710629.1:c.240G>C, XM_006710629.1:c.240G>A, XM_011541427.4:c.240G>C, XM_011541427.4:c.240G>A, XM_011541427.3:c.240G>C, XM_011541427.3:c.240G>A, XM_011541427.2:c.240G>C, XM_011541427.2:c.240G>A, XM_011541427.1:c.240G>C, XM_011541427.1:c.240G>A, XM_011541425.4:c.240G>C, XM_011541425.4:c.240G>A, XM_011541425.3:c.240G>C, XM_011541425.3:c.240G>A, XM_011541425.2:c.240G>C, XM_011541425.2:c.240G>A, XM_011541425.1:c.240G>C, XM_011541425.1:c.240G>A, XM_006710632.4:c.240G>C, XM_006710632.4:c.240G>A, XM_006710632.3:c.240G>C, XM_006710632.3:c.240G>A, XM_006710632.2:c.240G>C, XM_006710632.2:c.240G>A, XM_006710632.1:c.240G>C, XM_006710632.1:c.240G>A, XM_017001244.3:c.240G>C, XM_017001244.3:c.240G>A, XM_017001244.2:c.240G>C, XM_017001244.2:c.240G>A, XM_017001244.1:c.240G>C, XM_017001244.1:c.240G>A, XM_017001245.3:c.240G>C, XM_017001245.3:c.240G>A, XM_017001245.2:c.240G>C, XM_017001245.2:c.240G>A, XM_017001245.1:c.240G>C, XM_017001245.1:c.240G>A, XM_011541426.3:c.240G>C, XM_011541426.3:c.240G>A, XM_011541426.2:c.240G>C, XM_011541426.2:c.240G>A, XM_011541426.1:c.240G>C, XM_011541426.1:c.240G>A, XM_011541428.3:c.240G>C, XM_011541428.3:c.240G>A, XM_011541428.2:c.240G>C, XM_011541428.2:c.240G>A, XM_011541428.1:c.240G>C, XM_011541428.1:c.240G>A, NP_004971.2:p.Lys80Asn, NP_751948.1:p.Lys80Asn, NP_001365898.1:p.Lys80Asn, NP_001365899.1:p.Lys80Asn, XP_006710692.1:p.Lys80Asn, XP_011539729.1:p.Lys80Asn, XP_011539727.1:p.Lys80Asn, XP_006710695.1:p.Lys80Asn, XP_016856733.1:p.Lys80Asn, XP_016856734.1:p.Lys80Asn, XP_011539728.1:p.Lys80Asn, XP_011539730.1:p.Lys80Asn

Select item 143039135718.

rs1430391357 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111982717 (GRCh38)
1:112525339 (GRCh37)
Canonical SPDI:: NC_000001.11:111982716:C:T
Gene:: KCND3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111982717C>T, NC_000001.10:g.112525339C>T, NG_032011.2:g.11439G>A, NM_004980.5:c.10G>A, NM_004980.4:c.10G>A, NM_172198.3:c.10G>A, NM_172198.2:c.10G>A, NM_001378969.1:c.10G>A, NM_001378970.1:c.10G>A, XM_006710629.5:c.10G>A, XM_006710629.4:c.10G>A, XM_006710629.3:c.10G>A, XM_006710629.2:c.10G>A, XM_006710629.1:c.10G>A, XM_011541427.4:c.10G>A, XM_011541427.3:c.10G>A, XM_011541427.2:c.10G>A, XM_011541427.1:c.10G>A, XM_011541425.4:c.10G>A, XM_011541425.3:c.10G>A, XM_011541425.2:c.10G>A, XM_011541425.1:c.10G>A, XM_006710632.4:c.10G>A, XM_006710632.3:c.10G>A, XM_006710632.2:c.10G>A, XM_006710632.1:c.10G>A, XM_017001244.3:c.10G>A, XM_017001244.2:c.10G>A, XM_017001244.1:c.10G>A, XM_017001245.3:c.10G>A, XM_017001245.2:c.10G>A, XM_017001245.1:c.10G>A, XM_011541426.3:c.10G>A, XM_011541426.2:c.10G>A, XM_011541426.1:c.10G>A, XM_011541428.3:c.10G>A, XM_011541428.2:c.10G>A, XM_011541428.1:c.10G>A, NP_004971.2:p.Gly4Arg, NP_751948.1:p.Gly4Arg, NP_001365898.1:p.Gly4Arg, NP_001365899.1:p.Gly4Arg, XP_006710692.1:p.Gly4Arg, XP_011539729.1:p.Gly4Arg, XP_011539727.1:p.Gly4Arg, XP_006710695.1:p.Gly4Arg, XP_016856733.1:p.Gly4Arg, XP_016856734.1:p.Gly4Arg, XP_011539728.1:p.Gly4Arg, XP_011539730.1:p.Gly4Arg

Select item 142723647519.

rs1427236475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:111981972 (GRCh38)
1:112524594 (GRCh37)
Canonical SPDI:: NC_000001.11:111981971:T:C,NC_000001.11:111981971:T:G
Gene:: KCND3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000779/22 (TOMMO)
HGVS:: NC_000001.11:g.111981972T>C, NC_000001.11:g.111981972T>G, NC_000001.10:g.112524594T>C, NC_000001.10:g.112524594T>G, NG_032011.2:g.12184A>G, NG_032011.2:g.12184A>C, NM_004980.5:c.755A>G, NM_004980.5:c.755A>C, NM_004980.4:c.755A>G, NM_004980.4:c.755A>C, NM_172198.3:c.755A>G, NM_172198.3:c.755A>C, NM_172198.2:c.755A>G, NM_172198.2:c.755A>C, NM_001378969.1:c.755A>G, NM_001378969.1:c.755A>C, NM_001378970.1:c.755A>G, NM_001378970.1:c.755A>C, XM_006710629.5:c.755A>G, XM_006710629.5:c.755A>C, XM_006710629.4:c.755A>G, XM_006710629.4:c.755A>C, XM_006710629.3:c.755A>G, XM_006710629.3:c.755A>C, XM_006710629.2:c.755A>G, XM_006710629.2:c.755A>C, XM_006710629.1:c.755A>G, XM_006710629.1:c.755A>C, XM_011541427.4:c.755A>G, XM_011541427.4:c.755A>C, XM_011541427.3:c.755A>G, XM_011541427.3:c.755A>C, XM_011541427.2:c.755A>G, XM_011541427.2:c.755A>C, XM_011541427.1:c.755A>G, XM_011541427.1:c.755A>C, XM_011541425.4:c.755A>G, XM_011541425.4:c.755A>C, XM_011541425.3:c.755A>G, XM_011541425.3:c.755A>C, XM_011541425.2:c.755A>G, XM_011541425.2:c.755A>C, XM_011541425.1:c.755A>G, XM_011541425.1:c.755A>C, XM_006710632.4:c.755A>G, XM_006710632.4:c.755A>C, XM_006710632.3:c.755A>G, XM_006710632.3:c.755A>C, XM_006710632.2:c.755A>G, XM_006710632.2:c.755A>C, XM_006710632.1:c.755A>G, XM_006710632.1:c.755A>C, XM_017001244.3:c.755A>G, XM_017001244.3:c.755A>C, XM_017001244.2:c.755A>G, XM_017001244.2:c.755A>C, XM_017001244.1:c.755A>G, XM_017001244.1:c.755A>C, XM_017001245.3:c.755A>G, XM_017001245.3:c.755A>C, XM_017001245.2:c.755A>G, XM_017001245.2:c.755A>C, XM_017001245.1:c.755A>G, XM_017001245.1:c.755A>C, XM_011541426.3:c.755A>G, XM_011541426.3:c.755A>C, XM_011541426.2:c.755A>G, XM_011541426.2:c.755A>C, XM_011541426.1:c.755A>G, XM_011541426.1:c.755A>C, XM_011541428.3:c.755A>G, XM_011541428.3:c.755A>C, XM_011541428.2:c.755A>G, XM_011541428.2:c.755A>C, XM_011541428.1:c.755A>G, XM_011541428.1:c.755A>C, NP_004971.2:p.Tyr252Cys, NP_004971.2:p.Tyr252Ser, NP_751948.1:p.Tyr252Cys, NP_751948.1:p.Tyr252Ser, NP_001365898.1:p.Tyr252Cys, NP_001365898.1:p.Tyr252Ser, NP_001365899.1:p.Tyr252Cys, NP_001365899.1:p.Tyr252Ser, XP_006710692.1:p.Tyr252Cys, XP_006710692.1:p.Tyr252Ser, XP_011539729.1:p.Tyr252Cys, XP_011539729.1:p.Tyr252Ser, XP_011539727.1:p.Tyr252Cys, XP_011539727.1:p.Tyr252Ser, XP_006710695.1:p.Tyr252Cys, XP_006710695.1:p.Tyr252Ser, XP_016856733.1:p.Tyr252Cys, XP_016856733.1:p.Tyr252Ser, XP_016856734.1:p.Tyr252Cys, XP_016856734.1:p.Tyr252Ser, XP_011539728.1:p.Tyr252Cys, XP_011539728.1:p.Tyr252Ser, XP_011539730.1:p.Tyr252Cys, XP_011539730.1:p.Tyr252Ser

Select item 142510212720.

rs1425102127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:111982632 (GRCh38)
1:112525254 (GRCh37)
Canonical SPDI:: NC_000001.11:111982631:G:A
Gene:: KCND3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.111982632G>A, NC_000001.10:g.112525254G>A, NG_032011.2:g.11524C>T, NM_004980.5:c.95C>T, NM_004980.4:c.95C>T, NM_172198.3:c.95C>T, NM_172198.2:c.95C>T, NM_001378969.1:c.95C>T, NM_001378970.1:c.95C>T, XM_006710629.5:c.95C>T, XM_006710629.4:c.95C>T, XM_006710629.3:c.95C>T, XM_006710629.2:c.95C>T, XM_006710629.1:c.95C>T, XM_011541427.4:c.95C>T, XM_011541427.3:c.95C>T, XM_011541427.2:c.95C>T, XM_011541427.1:c.95C>T, XM_011541425.4:c.95C>T, XM_011541425.3:c.95C>T, XM_011541425.2:c.95C>T, XM_011541425.1:c.95C>T, XM_006710632.4:c.95C>T, XM_006710632.3:c.95C>T, XM_006710632.2:c.95C>T, XM_006710632.1:c.95C>T, XM_017001244.3:c.95C>T, XM_017001244.2:c.95C>T, XM_017001244.1:c.95C>T, XM_017001245.3:c.95C>T, XM_017001245.2:c.95C>T, XM_017001245.1:c.95C>T, XM_011541426.3:c.95C>T, XM_011541426.2:c.95C>T, XM_011541426.1:c.95C>T, XM_011541428.3:c.95C>T, XM_011541428.2:c.95C>T, XM_011541428.1:c.95C>T, NP_004971.2:p.Ala32Val, NP_751948.1:p.Ala32Val, NP_001365898.1:p.Ala32Val, NP_001365899.1:p.Ala32Val, XP_006710692.1:p.Ala32Val, XP_011539729.1:p.Ala32Val, XP_011539727.1:p.Ala32Val, XP_006710695.1:p.Ala32Val, XP_016856733.1:p.Ala32Val, XP_016856734.1:p.Ala32Val, XP_011539728.1:p.Ala32Val, XP_011539730.1:p.Ala32Val

<< First< Prev

Page of 15

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 300

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity