Canonical Allele Identifier: CA321920

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215357
• ClinVar RCV Id: RCV001155752 ; RCV001155751 ; RCV001722099 ; RCV003126580
• dbSNP Id: rs573775230
• ExAC: 4:6303029 G / A
• gnomAD v2: 4-6303029-G-A
• gnomAD v3: 4-6301302-G-A
• gnomAD v4: 4-6301302-G-A
• MyVariant Identifiers: chr4:g.6303029G>A (hg19) ; chr4:g.6301302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301302G>A , CM000666.2:g.6301302G>A	GRCh38
NC_000004.11:g.6303029G>A , CM000666.1:g.6303029G>A	GRCh37
NC_000004.10:g.6353930G>A	NCBI36
NG_011700.1:g.36453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1543G>A	ENSP00000507852.1:p.Val515Ile
ENST00000683395.1:c.1484G>A
ENST00000684087.1:c.1507G>A	ENSP00000506978.1:p.Val503Ile
ENST00000506362.2:c.1258G>A	ENSP00000424103.2:p.Val420Ile
ENST00000673642.1:c.1166G>A	ENSP00000501242.1:p.Arg389His
ENST00000673991.1:c.1543G>A	ENSP00000501033.1:p.Val515Ile
ENST00000226760.5:c.1507G>A MANE Select	ENSP00000226760.1:p.Val503Ile
ENST00000503569.5:c.1507G>A	ENSP00000423337.1:p.Val503Ile
ENST00000507765.1:n.1692G>A
NM_001145853.1:c.1507G>A	NP_001139325.1:p.Val503Ile
NM_006005.3:c.1507G>A MANE Select	NP_005996.2:p.Val503Ile
XM_017008586.1:c.1516G>A	XP_016864075.1:p.Val506Ile