Canonical Allele Identifier: CA182628

Gene: WFS1

Linked Data

• ClinVar Variation Id: 178596
• ClinVar RCV Id: RCV000155346 ; RCV001155848 ; RCV001155849 ; RCV001510415 ; RCV003126557
• dbSNP Id: rs140125843
• ExAC: 4:6303314 G / A
• gnomAD v2: 4-6303314-G-A
• gnomAD v3: 4-6301587-G-A
• gnomAD v4: 4-6301587-G-A
• MyVariant Identifiers: chr4:g.6303314G>A (hg19) ; chr4:g.6301587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301587G>A , CM000666.2:g.6301587G>A	GRCh38
NC_000004.11:g.6303314G>A , CM000666.1:g.6303314G>A	GRCh37
NC_000004.10:g.6354215G>A	NCBI36
NG_011700.1:g.36738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1828G>A	ENSP00000507852.1:p.Ala610Thr
ENST00000683395.1:c.1769G>A
ENST00000684087.1:c.1792G>A	ENSP00000506978.1:p.Ala598Thr
ENST00000506362.2:c.1543G>A	ENSP00000424103.2:p.Ala515Thr
ENST00000673642.1:c.1451G>A	ENSP00000501242.1:n.1451G>A
ENST00000673991.1:c.1828G>A	ENSP00000501033.1:p.Ala610Thr
ENST00000226760.5:c.1792G>A MANE Select	ENSP00000226760.1:p.Ala598Thr
ENST00000503569.5:c.1792G>A	ENSP00000423337.1:p.Ala598Thr
ENST00000507765.1:n.1977G>A
NM_001145853.1:c.1792G>A	NP_001139325.1:p.Ala598Thr
NM_006005.3:c.1792G>A MANE Select	NP_005996.2:p.Ala598Thr
XM_017008586.1:c.1801G>A	XP_016864075.1:p.Ala601Thr