SNP Links for Protein (Select 53832007) - SNP

Links from Protein

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Select item 14883788861.

rs1488378886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49209368 (GRCh38)
X:49065828 (GRCh37)
Canonical SPDI:: NC_000023.11:49209367:A:G
Gene:: CACNA1F (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49209368A>G, NW_004070880.2:g.1448797A>G, NG_009095.2:g.28999T>C, NM_005183.4:c.4880T>C, NM_005183.3:c.4880T>C, NM_005183.2:c.4880T>C, NM_001256789.3:c.4847T>C, NM_001256789.2:c.4847T>C, NM_001256789.1:c.4847T>C, NM_001256790.3:c.4685T>C, NM_001256790.2:c.4685T>C, NM_001256790.1:c.4685T>C, NC_000023.10:g.49065828A>G, XM_011543983.3:c.4664T>C, XM_011543983.2:c.4664T>C, XM_011543983.1:c.4664T>C, XM_017029836.1:c.2093T>C, NP_005174.2:p.Leu1627Ser, NP_001243718.1:p.Leu1616Ser, NP_001243719.1:p.Leu1562Ser, XP_011542285.1:p.Leu1555Ser, XP_016885325.1:p.Leu698Ser

Select item 14864931942.

rs1486493194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49214173 (GRCh38)
X:49070633 (GRCh37)
Canonical SPDI:: NC_000023.11:49214172:C:T
Gene:: CACNA1F (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.49214173C>T, NW_004070880.2:g.1453602C>T, NG_009095.2:g.24194G>A, NM_005183.4:c.3727G>A, NM_005183.3:c.3727G>A, NM_005183.2:c.3727G>A, NM_001256789.3:c.3694G>A, NM_001256789.2:c.3694G>A, NM_001256789.1:c.3694G>A, NM_001256790.3:c.3532G>A, NM_001256790.2:c.3532G>A, NM_001256790.1:c.3532G>A, NC_000023.10:g.49070633C>T, XM_011543983.3:c.3532G>A, XM_011543983.2:c.3532G>A, XM_011543983.1:c.3532G>A, XM_017029836.1:c.961G>A, NP_005174.2:p.Ala1243Thr, NP_001243718.1:p.Ala1232Thr, NP_001243719.1:p.Ala1178Thr, XP_011542285.1:p.Ala1178Thr, XP_016885325.1:p.Ala321Thr

Select item 14852005703.

rs1485200570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49222787 (GRCh38)
X:49079246 (GRCh37)
Canonical SPDI:: NC_000023.11:49222786:A:G
Gene:: CACNA1F (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.49222787A>G, NW_004070880.2:g.1462216A>G, NG_009095.2:g.15580T>C, NM_005183.4:c.2170T>C, NM_005183.3:c.2170T>C, NM_005183.2:c.2170T>C, NM_001256789.3:c.2137T>C, NM_001256789.2:c.2137T>C, NM_001256789.1:c.2137T>C, NM_001256790.3:c.1975T>C, NM_001256790.2:c.1975T>C, NM_001256790.1:c.1975T>C, NC_000023.10:g.49079246A>G, XM_011543983.3:c.1975T>C, XM_011543983.2:c.1975T>C, XM_011543983.1:c.1975T>C, NP_005174.2:p.Tyr724His, NP_001243718.1:p.Tyr713His, NP_001243719.1:p.Tyr659His, XP_011542285.1:p.Tyr659His

Select item 14844901374.

rs1484490137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49222599 (GRCh38)
X:49079058 (GRCh37)
Canonical SPDI:: NC_000023.11:49222598:G:A
Gene:: CACNA1F (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.49222599G>A, NW_004070880.2:g.1462028G>A, NG_009095.2:g.15768C>T, NM_005183.4:c.2244C>T, NM_005183.3:c.2244C>T, NM_005183.2:c.2244C>T, NM_001256789.3:c.2211C>T, NM_001256789.2:c.2211C>T, NM_001256789.1:c.2211C>T, NM_001256790.3:c.2049C>T, NM_001256790.2:c.2049C>T, NM_001256790.1:c.2049C>T, NC_000023.10:g.49079058G>A, XM_011543983.3:c.2049C>T, XM_011543983.2:c.2049C>T, XM_011543983.1:c.2049C>T

Select item 14835054915.

rs1483505491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:49228306 (GRCh38)
X:49084768 (GRCh37)
Canonical SPDI:: NC_000023.11:49228305:A:G
Gene:: CACNA1F (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000019/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.49228306A>G, NW_004070880.2:g.1467735A>G, NG_009095.2:g.10061T>C, NM_005183.4:c.959T>C, NM_005183.3:c.959T>C, NM_005183.2:c.959T>C, NM_001256789.3:c.959T>C, NM_001256789.2:c.959T>C, NM_001256789.1:c.959T>C, NM_001256790.3:c.764T>C, NM_001256790.2:c.764T>C, NM_001256790.1:c.764T>C, NC_000023.10:g.49084768A>G, XM_011543983.3:c.764T>C, XM_011543983.2:c.764T>C, XM_011543983.1:c.764T>C, NP_005174.2:p.Met320Thr, NP_001243718.1:p.Met320Thr, NP_001243719.1:p.Met255Thr, XP_011542285.1:p.Met255Thr

Select item 14829283526.

rs1482928352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:49231852 (GRCh38)
X:49088314 (GRCh37)
Canonical SPDI:: NC_000023.11:49231851:G:T
Gene:: CACNA1F (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.49231852G>T, NW_004070880.2:g.1471281G>T, NG_009095.2:g.6515C>A, NM_005183.4:c.101C>A, NM_005183.3:c.101C>A, NM_005183.2:c.101C>A, NM_001256789.3:c.101C>A, NM_001256789.2:c.101C>A, NM_001256789.1:c.101C>A, NG_021311.2:g.1388G>T, NC_000023.10:g.49088314G>T, NP_005174.2:p.Ala34Asp, NP_001243718.1:p.Ala34Asp

Select item 14773047087.

rs1477304708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:49205692 (GRCh38)
X:49062152 (GRCh37)
Canonical SPDI:: NC_000023.11:49205691:G:C
Gene:: CACNA1F (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.49205692G>C, NW_004070880.2:g.1445121G>C, NG_009095.2:g.32675C>G, NM_005183.4:c.5627C>G, NM_005183.3:c.5627C>G, NM_005183.2:c.5627C>G, NM_001256789.3:c.5594C>G, NM_001256789.2:c.5594C>G, NM_001256789.1:c.5594C>G, NM_001256790.3:c.5432C>G, NM_001256790.2:c.5432C>G, NM_001256790.1:c.5432C>G, NC_000023.10:g.49062152G>C, XM_011543983.3:c.5411C>G, XM_011543983.2:c.5411C>G, XM_011543983.1:c.5411C>G, XM_017029836.1:c.2777C>G, NP_005174.2:p.Thr1876Ser, NP_001243718.1:p.Thr1865Ser, NP_001243719.1:p.Thr1811Ser, XP_011542285.1:p.Thr1804Ser, XP_016885325.1:p.Thr926Ser

Select item 14767029238.

rs1476702923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:49208552 (GRCh38)
X:49065012 (GRCh37)
Canonical SPDI:: NC_000023.11:49208551:G:C
Gene:: CACNA1F (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.49208552G>C, NW_004070880.2:g.1447981G>C, NG_009095.2:g.29815C>G, NM_005183.4:c.5119C>G, NM_005183.3:c.5119C>G, NM_005183.2:c.5119C>G, NM_001256789.3:c.5086C>G, NM_001256789.2:c.5086C>G, NM_001256789.1:c.5086C>G, NM_001256790.3:c.4924C>G, NM_001256790.2:c.4924C>G, NM_001256790.1:c.4924C>G, NC_000023.10:g.49065012G>C, XM_011543983.3:c.4903C>G, XM_011543983.2:c.4903C>G, XM_011543983.1:c.4903C>G, XM_017029836.1:c.2332C>G, NP_005174.2:p.Gln1707Glu, NP_001243718.1:p.Gln1696Glu, NP_001243719.1:p.Gln1642Glu, XP_011542285.1:p.Gln1635Glu, XP_016885325.1:p.Gln778Glu

Select item 14761497269.

rs1476149726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:49224911 (GRCh38)
X:49081373 (GRCh37)
Canonical SPDI:: NC_000023.11:49224910:G:C
Gene:: CACNA1F (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.49224911G>C, NW_004070880.2:g.1464340G>C, NG_009095.2:g.13456C>G, NM_005183.4:c.1760C>G, NM_005183.3:c.1760C>G, NM_005183.2:c.1760C>G, NM_001256789.3:c.1727C>G, NM_001256789.2:c.1727C>G, NM_001256789.1:c.1727C>G, NM_001256790.3:c.1565C>G, NM_001256790.2:c.1565C>G, NM_001256790.1:c.1565C>G, NC_000023.10:g.49081373G>C, XM_011543983.3:c.1565C>G, XM_011543983.2:c.1565C>G, XM_011543983.1:c.1565C>G, NP_005174.2:p.Ala587Gly, NP_001243718.1:p.Ala576Gly, NP_001243719.1:p.Ala522Gly, XP_011542285.1:p.Ala522Gly

Select item 147090068310.

rs1470900683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:49213882 (GRCh38)
X:49070342 (GRCh37)
Canonical SPDI:: NC_000023.11:49213881:C:A
Gene:: CACNA1F (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.49213882C>A, NW_004070880.2:g.1453311C>A, NG_009095.2:g.24485G>T, NM_005183.4:c.3762G>T, NM_005183.3:c.3762G>T, NM_005183.2:c.3762G>T, NM_001256789.3:c.3729G>T, NM_001256789.2:c.3729G>T, NM_001256789.1:c.3729G>T, NM_001256790.3:c.3567G>T, NM_001256790.2:c.3567G>T, NM_001256790.1:c.3567G>T, NC_000023.10:g.49070342C>A, XM_011543983.3:c.3567G>T, XM_011543983.2:c.3567G>T, XM_011543983.1:c.3567G>T, XM_017029836.1:c.996G>T, NP_005174.2:p.Trp1254Cys, NP_001243718.1:p.Trp1243Cys, NP_001243719.1:p.Trp1189Cys, XP_011542285.1:p.Trp1189Cys, XP_016885325.1:p.Trp332Cys

Select item 147065704711.

rs1470657047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:49230356 (GRCh38)
X:49086818 (GRCh37)
Canonical SPDI:: NC_000023.11:49230355:G:A,NC_000023.11:49230355:G:T
Gene:: CACNA1F (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.49230356G>A, NC_000023.11:g.49230356G>T, NW_004070880.2:g.1469785G>A, NW_004070880.2:g.1469785G>T, NG_009095.2:g.8011C>T, NG_009095.2:g.8011C>A, NM_005183.4:c.681C>T, NM_005183.4:c.681C>A, NM_005183.3:c.681C>T, NM_005183.3:c.681C>A, NM_005183.2:c.681C>T, NM_005183.2:c.681C>A, NM_001256789.3:c.681C>T, NM_001256789.3:c.681C>A, NM_001256789.2:c.681C>T, NM_001256789.2:c.681C>A, NM_001256789.1:c.681C>T, NM_001256789.1:c.681C>A, NM_001256790.3:c.486C>T, NM_001256790.3:c.486C>A, NM_001256790.2:c.486C>T, NM_001256790.2:c.486C>A, NM_001256790.1:c.486C>T, NM_001256790.1:c.486C>A, NC_000023.10:g.49086818G>A, NC_000023.10:g.49086818G>T, XM_011543983.3:c.486C>T, XM_011543983.3:c.486C>A, XM_011543983.2:c.486C>T, XM_011543983.2:c.486C>A, XM_011543983.1:c.486C>T, XM_011543983.1:c.486C>A

Select item 146848830012.

rs1468488300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49226055 (GRCh38)
X:49082517 (GRCh37)
Canonical SPDI:: NC_000023.11:49226054:C:T
Gene:: CACNA1F (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49226055C>T, NW_004070880.2:g.1465484C>T, NG_009095.2:g.12312G>A, NM_005183.4:c.1538G>A, NM_005183.3:c.1538G>A, NM_005183.2:c.1538G>A, NM_001256789.3:c.1505G>A, NM_001256789.2:c.1505G>A, NM_001256789.1:c.1505G>A, NM_001256790.3:c.1343G>A, NM_001256790.2:c.1343G>A, NM_001256790.1:c.1343G>A, NC_000023.10:g.49082517C>T, XM_011543983.3:c.1343G>A, XM_011543983.2:c.1343G>A, XM_011543983.1:c.1343G>A, NP_005174.2:p.Arg513Gln, NP_001243718.1:p.Arg502Gln, NP_001243719.1:p.Arg448Gln, XP_011542285.1:p.Arg448Gln

Select item 146837261113.

rs1468372611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:49210355 (GRCh38)
X:49066815 (GRCh37)
Canonical SPDI:: NC_000023.11:49210354:A:T
Gene:: CACNA1F (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.49210355A>T, NW_004070880.2:g.1449784A>T, NG_009095.2:g.28012T>A, NM_005183.4:c.4567T>A, NM_005183.3:c.4567T>A, NM_005183.2:c.4567T>A, NM_001256789.3:c.4534T>A, NM_001256789.2:c.4534T>A, NM_001256789.1:c.4534T>A, NM_001256790.3:c.4372T>A, NM_001256790.2:c.4372T>A, NM_001256790.1:c.4372T>A, NC_000023.10:g.49066815A>T, XM_011543983.3:c.4351T>A, XM_011543983.2:c.4351T>A, XM_011543983.1:c.4351T>A, XM_017029836.1:c.1780T>A, NP_005174.2:p.Phe1523Ile, NP_001243718.1:p.Phe1512Ile, NP_001243719.1:p.Phe1458Ile, XP_011542285.1:p.Phe1451Ile, XP_016885325.1:p.Phe594Ile

Select item 146576790414.

rs1465767904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:49211038 (GRCh38)
X:49067498 (GRCh37)
Canonical SPDI:: NC_000023.11:49211037:C:G
Gene:: CACNA1F (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49211038C>G, NW_004070880.2:g.1450467C>G, NG_009095.2:g.27329G>C, NM_005183.4:c.4348G>C, NM_005183.3:c.4348G>C, NM_005183.2:c.4348G>C, NM_001256789.3:c.4315G>C, NM_001256789.2:c.4315G>C, NM_001256789.1:c.4315G>C, NM_001256790.3:c.4153G>C, NM_001256790.2:c.4153G>C, NM_001256790.1:c.4153G>C, NC_000023.10:g.49067498C>G, XM_011543983.3:c.4132G>C, XM_011543983.2:c.4132G>C, XM_011543983.1:c.4132G>C, XM_017029836.1:c.1561G>C, NP_005174.2:p.Asp1450His, NP_001243718.1:p.Asp1439His, NP_001243719.1:p.Asp1385His, XP_011542285.1:p.Asp1378His, XP_016885325.1:p.Asp521His

Select item 146525177015.

rs1465251770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:49227010 (GRCh38)
X:49083472 (GRCh37)
Canonical SPDI:: NC_000023.11:49227009:T:C
Gene:: CACNA1F (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49227010T>C, NW_004070880.2:g.1466439T>C, NG_009095.2:g.11357A>G, NM_005183.4:c.1236A>G, NM_005183.3:c.1236A>G, NM_005183.2:c.1236A>G, NM_001256789.3:c.1236A>G, NM_001256789.2:c.1236A>G, NM_001256789.1:c.1236A>G, NM_001256790.3:c.1041A>G, NM_001256790.2:c.1041A>G, NM_001256790.1:c.1041A>G, NC_000023.10:g.49083472T>C, XM_011543983.3:c.1041A>G, XM_011543983.2:c.1041A>G, XM_011543983.1:c.1041A>G

Select item 146481043316.

rs1464810433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49214254 (GRCh38)
X:49070714 (GRCh37)
Canonical SPDI:: NC_000023.11:49214253:C:T
Gene:: CACNA1F (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)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49214254C>T, NW_004070880.2:g.1453683C>T, NG_009095.2:g.24113G>A, NM_005183.4:c.3646G>A, NM_005183.3:c.3646G>A, NM_005183.2:c.3646G>A, NM_001256789.3:c.3613G>A, NM_001256789.2:c.3613G>A, NM_001256789.1:c.3613G>A, NM_001256790.3:c.3451G>A, NM_001256790.2:c.3451G>A, NM_001256790.1:c.3451G>A, NC_000023.10:g.49070714C>T, XM_011543983.3:c.3451G>A, XM_011543983.2:c.3451G>A, XM_011543983.1:c.3451G>A, XM_017029836.1:c.880G>A, NP_005174.2:p.Ala1216Thr, NP_001243718.1:p.Ala1205Thr, NP_001243719.1:p.Ala1151Thr, XP_011542285.1:p.Ala1151Thr, XP_016885325.1:p.Ala294Thr

Select item 146458756517.

rs1464587565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:49218469 (GRCh38)
X:49074928 (GRCh37)
Canonical SPDI:: NC_000023.11:49218468:C:T
Gene:: CACNA1F (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.49218469C>T, NW_004070880.2:g.1457898C>T, NG_009095.2:g.19898G>A, NM_005183.4:c.2947G>A, NM_005183.3:c.2947G>A, NM_005183.2:c.2947G>A, NM_001256789.3:c.2914G>A, NM_001256789.2:c.2914G>A, NM_001256789.1:c.2914G>A, NM_001256790.3:c.2752G>A, NM_001256790.2:c.2752G>A, NM_001256790.1:c.2752G>A, NC_000023.10:g.49074928C>T, XM_011543983.3:c.2752G>A, XM_011543983.2:c.2752G>A, XM_011543983.1:c.2752G>A, XM_017029836.1:c.181G>A, NP_005174.2:p.Ala983Thr, NP_001243718.1:p.Ala972Thr, NP_001243719.1:p.Ala918Thr, XP_011542285.1:p.Ala918Thr, XP_016885325.1:p.Ala61Thr

Select item 146439853618.

rs1464398536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49223114 (GRCh38)
X:49079573 (GRCh37)
Canonical SPDI:: NC_000023.11:49223113:G:A
Gene:: CACNA1F (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.49223114G>A, NW_004070880.2:g.1462543G>A, NG_009095.2:g.15253C>T, NM_005183.4:c.1933C>T, NM_005183.3:c.1933C>T, NM_005183.2:c.1933C>T, NM_001256789.3:c.1900C>T, NM_001256789.2:c.1900C>T, NM_001256789.1:c.1900C>T, NM_001256790.3:c.1738C>T, NM_001256790.2:c.1738C>T, NM_001256790.1:c.1738C>T, NC_000023.10:g.49079573G>A, XM_011543983.3:c.1738C>T, XM_011543983.2:c.1738C>T, XM_011543983.1:c.1738C>T

Select item 146379016519.

rs1463790165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:49219334 (GRCh38)
X:49075793 (GRCh37)
Canonical SPDI:: NC_000023.11:49219333:G:C
Gene:: CACNA1F (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.49219334G>C, NW_004070880.2:g.1458763G>C, NG_009095.2:g.19033C>G, NM_005183.4:c.2693C>G, NM_005183.3:c.2693C>G, NM_005183.2:c.2693C>G, NM_001256789.3:c.2660C>G, NM_001256789.2:c.2660C>G, NM_001256789.1:c.2660C>G, NM_001256790.3:c.2498C>G, NM_001256790.2:c.2498C>G, NM_001256790.1:c.2498C>G, NC_000023.10:g.49075793G>C, XM_011543983.3:c.2498C>G, XM_011543983.2:c.2498C>G, XM_011543983.1:c.2498C>G, XM_017029836.1:c.-74C>G, NP_005174.2:p.Ser898Cys, NP_001243718.1:p.Ser887Cys, NP_001243719.1:p.Ser833Cys, XP_011542285.1:p.Ser833Cys

Select item 146114675520.

rs1461146755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:49216426 (GRCh38)
X:49072886 (GRCh37)
Canonical SPDI:: NC_000023.11:49216425:G:A
Gene:: CACNA1F (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.49216426G>A, NW_004070880.2:g.1455855G>A, NG_009095.2:g.21941C>T, NM_005183.4:c.3225C>T, NM_005183.3:c.3225C>T, NM_005183.2:c.3225C>T, NM_001256789.3:c.3192C>T, NM_001256789.2:c.3192C>T, NM_001256789.1:c.3192C>T, NM_001256790.3:c.3030C>T, NM_001256790.2:c.3030C>T, NM_001256790.1:c.3030C>T, NC_000023.10:g.49072886G>A, XM_011543983.3:c.3030C>T, XM_011543983.2:c.3030C>T, XM_011543983.1:c.3030C>T, XM_017029836.1:c.459C>T

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