Canonical Allele Identifier: CA246711
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198190
ClinVar RCV Id: RCV000023512 RCV000200201 RCV000515386 RCV000724125 RCV001155464 RCV001155463 RCV004537488
dbSNP Id: rs150771247
ExAC: 4:6293695 G / A
gnomAD v2: 4-6293695-G-A
gnomAD v3: 4-6291968-G-A
gnomAD v4: 4-6291968-G-A
MyVariant Identifiers: chr4:g.6293695G>A (hg19) chr4:g.6291968G>A (hg38)
PubMed: PMID:25133958
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291968G>A , CM000666.2:g.6291968G>A GRCh38
NC_000004.11:g.6293695G>A , CM000666.1:g.6293695G>A GRCh37
NC_000004.10:g.6344596G>A NCBI36
NG_011700.1:g.27119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.683G>A ENSP00000507852.1:p.Arg228His
ENST00000683395.1:c.660G>A
ENST00000684087.1:c.683G>A ENSP00000506978.1:p.Arg228His
ENST00000506362.2:c.434G>A ENSP00000424103.2:p.Arg145His
ENST00000673642.1:c.482G>A ENSP00000501242.1:p.Arg161His
ENST00000673991.1:c.683G>A ENSP00000501033.1:p.Arg228His
ENST00000226760.5:c.683G>A MANE Select ENSP00000226760.1:p.Arg228His
ENST00000503569.5:c.683G>A ENSP00000423337.1:p.Arg228His
ENST00000506362.1:c.280G>A
ENST00000507765.1:n.868G>A
NM_001145853.1:c.683G>A NP_001139325.1:p.Arg228His
NM_006005.3:c.683G>A MANE Select NP_005996.2:p.Arg228His
XM_017008586.1:c.692G>A XP_016864075.1:p.Arg231His
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