SNP Links for Protein (Select 300797299) - SNP

Select item 14908707591.

rs1490870759 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:92453914 (GRCh38)
14:92920258 (GRCh37)
Canonical SPDI:: NC_000014.9:92453911:CACA:CA
Gene:: SLC24A4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92453912CA[1], NC_000014.8:g.92920256CA[1], NG_023408.1:g.136332CA[1], NM_153646.4:c.895_896del, NM_153646.3:c.895_896del, NM_153647.4:c.838_839del, NM_153647.3:c.838_839del, NM_153648.4:c.703_704del, NM_153648.3:c.703_704del, NM_001378620.1:c.895_896del, XM_011536436.3:c.1036_1037del, XM_011536436.2:c.1036_1037del, XM_011536436.1:c.1036_1037del, XM_011536437.3:c.979_980del, XM_011536437.2:c.979_980del, XM_011536437.1:c.979_980del, XM_024449478.2:c.838_839del, XM_024449478.1:c.838_839del, XM_011536440.2:c.145_146del, XM_011536440.1:c.145_146del, XM_005267342.2:c.451_452del, XM_005267342.1:c.451_452del, NP_705932.2:p.Gln299fs, NP_705933.2:p.Gln280fs, NP_705934.1:p.Gln235fs, NP_001365549.1:p.Gln299fs, XP_011534738.1:p.Gln346fs, XP_011534739.1:p.Gln327fs, XP_024305246.1:p.Gln280fs, XP_011534742.1:p.Gln49fs, XP_005267399.1:p.Gln151fs

Select item 14898295692.

rs1489829569 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:92456440 (GRCh38)
14:92922784 (GRCh37)
Canonical SPDI:: NC_000014.9:92456439:A:G
Gene:: SLC24A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92456440A>G, NC_000014.8:g.92922784A>G, NG_023408.1:g.138860A>G, NM_153646.4:c.1087A>G, NM_153646.3:c.1087A>G, NM_153647.4:c.1030A>G, NM_153647.3:c.1030A>G, NM_153648.4:c.895A>G, NM_153648.3:c.895A>G, NM_001378620.1:c.1087A>G, XM_011536436.3:c.1228A>G, XM_011536436.2:c.1228A>G, XM_011536436.1:c.1228A>G, XM_011536437.3:c.1171A>G, XM_011536437.2:c.1171A>G, XM_011536437.1:c.1171A>G, XM_024449478.2:c.1030A>G, XM_024449478.1:c.1030A>G, XM_011536440.2:c.337A>G, XM_011536440.1:c.337A>G, XM_005267342.2:c.643A>G, XM_005267342.1:c.643A>G, NP_705932.2:p.Ser363Gly, NP_705933.2:p.Ser344Gly, NP_705934.1:p.Ser299Gly, NP_001365549.1:p.Ser363Gly, XP_011534738.1:p.Ser410Gly, XP_011534739.1:p.Ser391Gly, XP_024305246.1:p.Ser344Gly, XP_011534742.1:p.Ser113Gly, XP_005267399.1:p.Ser215Gly

Select item 14878489653.

rs1487848965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:92325912 (GRCh38)
14:92792256 (GRCh37)
Canonical SPDI:: NC_000014.9:92325911:T:A,NC_000014.9:92325911:T:C
Gene:: SLC24A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
HGVS:: NC_000014.9:g.92325912T>A, NC_000014.9:g.92325912T>C, NC_000014.8:g.92792256T>A, NC_000014.8:g.92792256T>C, NG_023408.1:g.8332T>A, NG_023408.1:g.8332T>C, NM_153646.4:c.175T>A, NM_153646.4:c.175T>C, NM_153646.3:c.175T>A, NM_153646.3:c.175T>C, NM_153647.4:c.175T>A, NM_153647.4:c.175T>C, NM_153647.3:c.175T>A, NM_153647.3:c.175T>C, NM_153648.4:c.-18T>A, NM_153648.4:c.-18T>C, NM_153648.3:c.-18T>A, NM_153648.3:c.-18T>C, NM_001378620.1:c.175T>A, NM_001378620.1:c.175T>C, XM_011536436.3:c.316T>A, XM_011536436.3:c.316T>C, XM_011536436.2:c.316T>A, XM_011536436.2:c.316T>C, XM_011536436.1:c.316T>A, XM_011536436.1:c.316T>C, XM_011536437.3:c.316T>A, XM_011536437.3:c.316T>C, XM_011536437.2:c.316T>A, XM_011536437.2:c.316T>C, XM_011536437.1:c.316T>A, XM_011536437.1:c.316T>C, XM_024449478.2:c.175T>A, XM_024449478.2:c.175T>C, XM_024449478.1:c.175T>A, XM_024449478.1:c.175T>C, NP_705932.2:p.Trp59Arg, NP_705932.2:p.Trp59Arg, NP_705933.2:p.Trp59Arg, NP_705933.2:p.Trp59Arg, NP_001365549.1:p.Trp59Arg, NP_001365549.1:p.Trp59Arg, XP_011534738.1:p.Trp106Arg, XP_011534738.1:p.Trp106Arg, XP_011534739.1:p.Trp106Arg, XP_011534739.1:p.Trp106Arg, XP_024305246.1:p.Trp59Arg, XP_024305246.1:p.Trp59Arg

Select item 14858727274.

rs1485872727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:92449093 (GRCh38)
14:92915437 (GRCh37)
Canonical SPDI:: NC_000014.9:92449092:G:A
Gene:: SLC24A4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92449093G>A, NC_000014.8:g.92915437G>A, NG_023408.1:g.131513G>A, NM_153646.4:c.757G>A, NM_153646.3:c.757G>A, NM_153647.4:c.757G>A, NM_153647.3:c.757G>A, NM_153648.4:c.565G>A, NM_153648.3:c.565G>A, NM_001378620.1:c.757G>A, XM_011536436.3:c.898G>A, XM_011536436.2:c.898G>A, XM_011536436.1:c.898G>A, XM_011536437.3:c.898G>A, XM_011536437.2:c.898G>A, XM_011536437.1:c.898G>A, XM_024449478.2:c.757G>A, XM_024449478.1:c.757G>A, XM_011536440.2:c.7G>A, XM_011536440.1:c.7G>A, XM_005267342.2:c.313G>A, XM_005267342.1:c.313G>A, NP_705932.2:p.Ala253Thr, NP_705933.2:p.Ala253Thr, NP_705934.1:p.Ala189Thr, NP_001365549.1:p.Ala253Thr, XP_011534738.1:p.Ala300Thr, XP_011534739.1:p.Ala300Thr, XP_024305246.1:p.Ala253Thr, XP_011534742.1:p.Ala3Thr, XP_005267399.1:p.Ala105Thr

Select item 14786602075.

rs1478660207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92493529 (GRCh38)
14:92959873 (GRCh37)
Canonical SPDI:: NC_000014.9:92493528:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.92493529C>T, NC_000014.8:g.92959873C>T, NG_023408.1:g.175949C>T, NM_153646.4:c.1770C>T, NM_153646.3:c.1770C>T, NM_153647.4:c.1713C>T, NM_153647.3:c.1713C>T, NM_153648.4:c.1578C>T, NM_153648.3:c.1578C>T, NM_001378620.1:c.1770C>T, XM_011536436.3:c.1911C>T, XM_011536436.2:c.1911C>T, XM_011536436.1:c.1911C>T, XM_011536437.3:c.1854C>T, XM_011536437.2:c.1854C>T, XM_011536437.1:c.1854C>T, XM_024449478.2:c.1713C>T, XM_024449478.1:c.1713C>T, XM_011536440.2:c.1020C>T, XM_011536440.1:c.1020C>T

Select item 14771555566.

rs1477155556 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:92439342 (GRCh38)
14:92905686 (GRCh37)
Canonical SPDI:: NC_000014.9:92439341:A:G
Gene:: SLC24A4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.92439342A>G, NC_000014.8:g.92905686A>G, NG_023408.1:g.121762A>G, NM_153646.4:c.326A>G, NM_153646.3:c.326A>G, NM_153647.4:c.326A>G, NM_153647.3:c.326A>G, NM_153648.4:c.134A>G, NM_153648.3:c.134A>G, NM_001378620.1:c.326A>G, XM_011536436.3:c.467A>G, XM_011536436.2:c.467A>G, XM_011536436.1:c.467A>G, XM_011536437.3:c.467A>G, XM_011536437.2:c.467A>G, XM_011536437.1:c.467A>G, XM_024449478.2:c.326A>G, XM_024449478.1:c.326A>G, XM_005267342.2:c.-2A>G, XM_005267342.1:c.-2A>G, NP_705932.2:p.Tyr109Cys, NP_705933.2:p.Tyr109Cys, NP_705934.1:p.Tyr45Cys, NP_001365549.1:p.Tyr109Cys, XP_011534738.1:p.Tyr156Cys, XP_011534739.1:p.Tyr156Cys, XP_024305246.1:p.Tyr109Cys

Select item 14764412397.

rs1476441239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92442723 (GRCh38)
14:92909067 (GRCh37)
Canonical SPDI:: NC_000014.9:92442722:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92442723C>T, NC_000014.8:g.92909067C>T, NG_023408.1:g.125143C>T, NM_153646.4:c.489C>T, NM_153646.3:c.489C>T, NM_153647.4:c.489C>T, NM_153647.3:c.489C>T, NM_153648.4:c.297C>T, NM_153648.3:c.297C>T, NM_001378620.1:c.489C>T, XM_011536436.3:c.630C>T, XM_011536436.2:c.630C>T, XM_011536436.1:c.630C>T, XM_011536437.3:c.630C>T, XM_011536437.2:c.630C>T, XM_011536437.1:c.630C>T, XM_024449478.2:c.489C>T, XM_024449478.1:c.489C>T, XM_005267342.2:c.162C>T, XM_005267342.1:c.162C>T

Select item 14748316558.

rs1474831655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:92492188 (GRCh38)
14:92958532 (GRCh37)
Canonical SPDI:: NC_000014.9:92492187:G:A
Gene:: SLC24A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92492188G>A, NC_000014.8:g.92958532G>A, NG_023408.1:g.174608G>A, NM_153646.4:c.1664G>A, NM_153646.3:c.1664G>A, NM_153647.4:c.1607G>A, NM_153647.3:c.1607G>A, NM_153648.4:c.1472G>A, NM_153648.3:c.1472G>A, NM_001378620.1:c.1664G>A, XM_011536436.3:c.1805G>A, XM_011536436.2:c.1805G>A, XM_011536436.1:c.1805G>A, XM_011536437.3:c.1748G>A, XM_011536437.2:c.1748G>A, XM_011536437.1:c.1748G>A, XM_024449478.2:c.1607G>A, XM_024449478.1:c.1607G>A, XM_011536440.2:c.914G>A, XM_011536440.1:c.914G>A, NP_705932.2:p.Ser555Asn, NP_705933.2:p.Ser536Asn, NP_705934.1:p.Ser491Asn, NP_001365549.1:p.Ser555Asn, XP_011534738.1:p.Ser602Asn, XP_011534739.1:p.Ser583Asn, XP_024305246.1:p.Ser536Asn, XP_011534742.1:p.Ser305Asn

Select item 14723936429.

rs1472393642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:92492206 (GRCh38)
14:92958550 (GRCh37)
Canonical SPDI:: NC_000014.9:92492205:C:A,NC_000014.9:92492205:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.92492206C>A, NC_000014.9:g.92492206C>T, NC_000014.8:g.92958550C>A, NC_000014.8:g.92958550C>T, NG_023408.1:g.174626C>A, NG_023408.1:g.174626C>T, NM_153646.4:c.1682C>A, NM_153646.4:c.1682C>T, NM_153646.3:c.1682C>A, NM_153646.3:c.1682C>T, NM_153647.4:c.1625C>A, NM_153647.4:c.1625C>T, NM_153647.3:c.1625C>A, NM_153647.3:c.1625C>T, NM_153648.4:c.1490C>A, NM_153648.4:c.1490C>T, NM_153648.3:c.1490C>A, NM_153648.3:c.1490C>T, NM_001378620.1:c.1682C>A, NM_001378620.1:c.1682C>T, XM_011536436.3:c.1823C>A, XM_011536436.3:c.1823C>T, XM_011536436.2:c.1823C>A, XM_011536436.2:c.1823C>T, XM_011536436.1:c.1823C>A, XM_011536436.1:c.1823C>T, XM_011536437.3:c.1766C>A, XM_011536437.3:c.1766C>T, XM_011536437.2:c.1766C>A, XM_011536437.2:c.1766C>T, XM_011536437.1:c.1766C>A, XM_011536437.1:c.1766C>T, XM_024449478.2:c.1625C>A, XM_024449478.2:c.1625C>T, XM_024449478.1:c.1625C>A, XM_024449478.1:c.1625C>T, XM_011536440.2:c.932C>A, XM_011536440.2:c.932C>T, XM_011536440.1:c.932C>A, XM_011536440.1:c.932C>T, NP_705932.2:p.Ser561Tyr, NP_705932.2:p.Ser561Phe, NP_705933.2:p.Ser542Tyr, NP_705933.2:p.Ser542Phe, NP_705934.1:p.Ser497Tyr, NP_705934.1:p.Ser497Phe, NP_001365549.1:p.Ser561Tyr, NP_001365549.1:p.Ser561Phe, XP_011534738.1:p.Ser608Tyr, XP_011534738.1:p.Ser608Phe, XP_011534739.1:p.Ser589Tyr, XP_011534739.1:p.Ser589Phe, XP_024305246.1:p.Ser542Tyr, XP_024305246.1:p.Ser542Phe, XP_011534742.1:p.Ser311Tyr, XP_011534742.1:p.Ser311Phe

Select item 147228923810.

rs1472289238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92491675 (GRCh38)
14:92958019 (GRCh37)
Canonical SPDI:: NC_000014.9:92491674:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92491675C>T, NC_000014.8:g.92958019C>T, NG_023408.1:g.174095C>T, NM_153646.4:c.1548C>T, NM_153646.3:c.1548C>T, NM_153647.4:c.1491C>T, NM_153647.3:c.1491C>T, NM_153648.4:c.1356C>T, NM_153648.3:c.1356C>T, NM_001378620.1:c.1548C>T, XM_011536436.3:c.1689C>T, XM_011536436.2:c.1689C>T, XM_011536436.1:c.1689C>T, XM_011536437.3:c.1632C>T, XM_011536437.2:c.1632C>T, XM_011536437.1:c.1632C>T, XM_024449478.2:c.1491C>T, XM_024449478.1:c.1491C>T, XM_011536440.2:c.798C>T, XM_011536440.1:c.798C>T

Select item 147067365711.

rs1470673657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92491776 (GRCh38)
14:92958120 (GRCh37)
Canonical SPDI:: NC_000014.9:92491775:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000014.9:g.92491776C>T, NC_000014.8:g.92958120C>T, NG_023408.1:g.174196C>T, NM_153646.4:c.1649C>T, NM_153646.3:c.1649C>T, NM_153647.4:c.1592C>T, NM_153647.3:c.1592C>T, NM_153648.4:c.1457C>T, NM_153648.3:c.1457C>T, NM_001378620.1:c.1649C>T, XM_011536436.3:c.1790C>T, XM_011536436.2:c.1790C>T, XM_011536436.1:c.1790C>T, XM_011536437.3:c.1733C>T, XM_011536437.2:c.1733C>T, XM_011536437.1:c.1733C>T, XM_024449478.2:c.1592C>T, XM_024449478.1:c.1592C>T, XM_011536440.2:c.899C>T, XM_011536440.1:c.899C>T, NP_705932.2:p.Thr550Ile, NP_705933.2:p.Thr531Ile, NP_705934.1:p.Thr486Ile, NP_001365549.1:p.Thr550Ile, XP_011534738.1:p.Thr597Ile, XP_011534739.1:p.Thr578Ile, XP_024305246.1:p.Thr531Ile, XP_011534742.1:p.Thr300Ile

Select item 146792636412.

rs1467926364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92456587 (GRCh38)
14:92922931 (GRCh37)
Canonical SPDI:: NC_000014.9:92456586:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92456587C>T, NC_000014.8:g.92922931C>T, NG_023408.1:g.139007C>T, NM_153646.4:c.1234C>T, NM_153646.3:c.1234C>T, NM_153647.4:c.1177C>T, NM_153647.3:c.1177C>T, NM_153648.4:c.1042C>T, NM_153648.3:c.1042C>T, NM_001378620.1:c.1234C>T, XM_011536436.3:c.1375C>T, XM_011536436.2:c.1375C>T, XM_011536436.1:c.1375C>T, XM_011536437.3:c.1318C>T, XM_011536437.2:c.1318C>T, XM_011536437.1:c.1318C>T, XM_024449478.2:c.1177C>T, XM_024449478.1:c.1177C>T, XM_011536440.2:c.484C>T, XM_011536440.1:c.484C>T, XM_005267342.2:c.790C>T, XM_005267342.1:c.790C>T

Select item 146672552713.

rs1466725527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92447389 (GRCh38)
14:92913733 (GRCh37)
Canonical SPDI:: NC_000014.9:92447388:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000014.9:g.92447389C>T, NC_000014.8:g.92913733C>T, NG_023408.1:g.129809C>T, NM_153646.4:c.702C>T, NM_153646.3:c.702C>T, NM_153647.4:c.702C>T, NM_153647.3:c.702C>T, NM_153648.4:c.510C>T, NM_153648.3:c.510C>T, NM_001378620.1:c.702C>T, XM_011536436.3:c.843C>T, XM_011536436.2:c.843C>T, XM_011536436.1:c.843C>T, XM_011536437.3:c.843C>T, XM_011536437.2:c.843C>T, XM_011536437.1:c.843C>T, XM_024449478.2:c.702C>T, XM_024449478.1:c.702C>T, XM_005267342.2:c.258C>T, XM_005267342.1:c.258C>T

Select item 146459550814.

rs1464595508 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:92442096 (GRCh38)
14:92908440 (GRCh37)
Canonical SPDI:: NC_000014.9:92442095:A:G
Gene:: SLC24A4 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92442096A>G, NC_000014.8:g.92908440A>G, NG_023408.1:g.124516A>G, NM_153646.4:c.401A>G, NM_153646.3:c.401A>G, NM_153647.4:c.401A>G, NM_153647.3:c.401A>G, NM_153648.4:c.209A>G, NM_153648.3:c.209A>G, NM_001378620.1:c.401A>G, XM_011536436.3:c.542A>G, XM_011536436.2:c.542A>G, XM_011536436.1:c.542A>G, XM_011536437.3:c.542A>G, XM_011536437.2:c.542A>G, XM_011536437.1:c.542A>G, XM_024449478.2:c.401A>G, XM_024449478.1:c.401A>G, XM_005267342.2:c.74A>G, XM_005267342.1:c.74A>G, NP_705932.2:p.His134Arg, NP_705933.2:p.His134Arg, NP_705934.1:p.His70Arg, NP_001365549.1:p.His134Arg, XP_011534738.1:p.His181Arg, XP_011534739.1:p.His181Arg, XP_024305246.1:p.His134Arg, XP_005267399.1:p.His25Arg

Select item 146407626515.

rs1464076265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:92433927 (GRCh38)
14:92900271 (GRCh37)
Canonical SPDI:: NC_000014.9:92433926:C:G
Gene:: SLC24A4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.92433927C>G, NC_000014.8:g.92900271C>G, NG_023408.1:g.116347C>G, NM_153646.4:c.257C>G, NM_153646.3:c.257C>G, NM_153647.4:c.257C>G, NM_153647.3:c.257C>G, NM_153648.4:c.65C>G, NM_153648.3:c.65C>G, NM_001378620.1:c.257C>G, XM_011536436.3:c.398C>G, XM_011536436.2:c.398C>G, XM_011536436.1:c.398C>G, XM_011536437.3:c.398C>G, XM_011536437.2:c.398C>G, XM_011536437.1:c.398C>G, XM_024449478.2:c.257C>G, XM_024449478.1:c.257C>G, XM_005267342.2:c.-71C>G, XM_005267342.1:c.-71C>G, NP_705932.2:p.Pro86Arg, NP_705933.2:p.Pro86Arg, NP_705934.1:p.Pro22Arg, NP_001365549.1:p.Pro86Arg, XP_011534738.1:p.Pro133Arg, XP_011534739.1:p.Pro133Arg, XP_024305246.1:p.Pro86Arg

Select item 146361884116.

rs1463618841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92493487 (GRCh38)
14:92959831 (GRCh37)
Canonical SPDI:: NC_000014.9:92493486:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92493487C>T, NC_000014.8:g.92959831C>T, NG_023408.1:g.175907C>T, NM_153646.4:c.1728C>T, NM_153646.3:c.1728C>T, NM_153647.4:c.1671C>T, NM_153647.3:c.1671C>T, NM_153648.4:c.1536C>T, NM_153648.3:c.1536C>T, NM_001378620.1:c.1728C>T, XM_011536436.3:c.1869C>T, XM_011536436.2:c.1869C>T, XM_011536436.1:c.1869C>T, XM_011536437.3:c.1812C>T, XM_011536437.2:c.1812C>T, XM_011536437.1:c.1812C>T, XM_024449478.2:c.1671C>T, XM_024449478.1:c.1671C>T, XM_011536440.2:c.978C>T, XM_011536440.1:c.978C>T

Select item 146264627217.

rs1462646272 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 14:92454060 (GRCh38)
14:92920404 (GRCh37)
Canonical SPDI:: NC_000014.9:92454054:ATCATCAT:ATCAT
Gene:: SLC24A4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92454057CAT[1], NC_000014.8:g.92920401CAT[1], NG_023408.1:g.136477CAT[1], NM_153646.4:c.1038CAT[1], NM_153646.3:c.1038CAT[1], NM_153647.4:c.981CAT[1], NM_153647.3:c.981CAT[1], NM_153648.4:c.846CAT[1], NM_153648.3:c.846CAT[1], NM_001378620.1:c.1038CAT[1], XM_011536436.3:c.1179CAT[1], XM_011536436.2:c.1179CAT[1], XM_011536436.1:c.1179CAT[1], XM_011536437.3:c.1122CAT[1], XM_011536437.2:c.1122CAT[1], XM_011536437.1:c.1122CAT[1], XM_024449478.2:c.981CAT[1], XM_024449478.1:c.981CAT[1], XM_011536440.2:c.288CAT[1], XM_011536440.1:c.288CAT[1], XM_005267342.2:c.594CAT[1], XM_005267342.1:c.594CAT[1], NP_705932.2:p.Ile348del, NP_705933.2:p.Ile329del, NP_705934.1:p.Ile284del, NP_001365549.1:p.Ile348del, XP_011534738.1:p.Ile395del, XP_011534739.1:p.Ile376del, XP_024305246.1:p.Ile329del, XP_011534742.1:p.Ile98del, XP_005267399.1:p.Ile200del

Select item 146223276418.

rs1462232764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:92442157 (GRCh38)
14:92908501 (GRCh37)
Canonical SPDI:: NC_000014.9:92442156:G:C
Gene:: SLC24A4 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92442157G>C, NC_000014.8:g.92908501G>C, NG_023408.1:g.124577G>C, NM_153646.4:c.462G>C, NM_153646.3:c.462G>C, NM_153647.4:c.462G>C, NM_153647.3:c.462G>C, NM_153648.4:c.270G>C, NM_153648.3:c.270G>C, NM_001378620.1:c.462G>C, XM_011536436.3:c.603G>C, XM_011536436.2:c.603G>C, XM_011536436.1:c.603G>C, XM_011536437.3:c.603G>C, XM_011536437.2:c.603G>C, XM_011536437.1:c.603G>C, XM_024449478.2:c.462G>C, XM_024449478.1:c.462G>C, XM_005267342.2:c.135G>C, XM_005267342.1:c.135G>C

Select item 146169382719.

rs1461693827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:92492210 (GRCh38)
14:92958554 (GRCh37)
Canonical SPDI:: NC_000014.9:92492209:G:A
Gene:: SLC24A4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.92492210G>A, NC_000014.8:g.92958554G>A, NG_023408.1:g.174630G>A, NM_153646.4:c.1686G>A, NM_153646.3:c.1686G>A, NM_153647.4:c.1629G>A, NM_153647.3:c.1629G>A, NM_153648.4:c.1494G>A, NM_153648.3:c.1494G>A, NM_001378620.1:c.1686G>A, XM_011536436.3:c.1827G>A, XM_011536436.2:c.1827G>A, XM_011536436.1:c.1827G>A, XM_011536437.3:c.1770G>A, XM_011536437.2:c.1770G>A, XM_011536437.1:c.1770G>A, XM_024449478.2:c.1629G>A, XM_024449478.1:c.1629G>A, XM_011536440.2:c.936G>A, XM_011536440.1:c.936G>A

Select item 146100635220.

rs1461006352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:92325883 (GRCh38)
14:92792227 (GRCh37)
Canonical SPDI:: NC_000014.9:92325882:C:T
Gene:: SLC24A4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.92325883C>T, NC_000014.8:g.92792227C>T, NG_023408.1:g.8303C>T, NM_153646.4:c.146C>T, NM_153646.3:c.146C>T, NM_153647.4:c.146C>T, NM_153647.3:c.146C>T, NM_153648.4:c.-47C>T, NM_153648.3:c.-47C>T, NM_001378620.1:c.146C>T, XM_011536436.3:c.287C>T, XM_011536436.2:c.287C>T, XM_011536436.1:c.287C>T, XM_011536437.3:c.287C>T, XM_011536437.2:c.287C>T, XM_011536437.1:c.287C>T, XM_024449478.2:c.146C>T, XM_024449478.1:c.146C>T, NP_705932.2:p.Ser49Phe, NP_705933.2:p.Ser49Phe, NP_001365549.1:p.Ser49Phe, XP_011534738.1:p.Ser96Phe, XP_011534739.1:p.Ser96Phe, XP_024305246.1:p.Ser49Phe

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Result Filters

Clinical Significance

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Items: 1 to 20 of 634

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