Canonical Allele Identifier: CA321251
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215412
ClinVar RCV Id: RCV000196844 RCV000765782 RCV001157458 RCV001157457
dbSNP Id: rs544933961
ExAC: 4:6303060 A / C
gnomAD v2: 4-6303060-A-C
gnomAD v3: 4-6301333-A-C
gnomAD v4: 4-6301333-A-C
MyVariant Identifiers: chr4:g.6303060A>C (hg19) chr4:g.6301333A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301333A>C , CM000666.2:g.6301333A>C GRCh38
NC_000004.11:g.6303060A>C , CM000666.1:g.6303060A>C GRCh37
NC_000004.10:g.6353961A>C NCBI36
NG_011700.1:g.36484A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1574A>C ENSP00000507852.1:p.Tyr525Ser
ENST00000683395.1:c.1515A>C
ENST00000684087.1:c.1538A>C ENSP00000506978.1:p.Tyr513Ser
ENST00000506362.2:c.1289A>C ENSP00000424103.2:p.Tyr430Ser
ENST00000673642.1:c.1197A>C ENSP00000501242.1:p.Leu399=
ENST00000673991.1:c.1574A>C ENSP00000501033.1:p.Tyr525Ser
ENST00000226760.5:c.1538A>C MANE Select ENSP00000226760.1:p.Tyr513Ser
ENST00000503569.5:c.1538A>C ENSP00000423337.1:p.Tyr513Ser
ENST00000507765.1:n.1723A>C
NM_001145853.1:c.1538A>C NP_001139325.1:p.Tyr513Ser
NM_006005.3:c.1538A>C MANE Select NP_005996.2:p.Tyr513Ser
XM_017008586.1:c.1547A>C XP_016864075.1:p.Tyr516Ser
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