Canonical Allele Identifier: CA285655

Gene: WFS1

Linked Data

• ClinVar Variation Id: 95325
• ClinVar RCV Id: RCV000081342 ; RCV000342228 ; RCV000421798 ; RCV000445441 ; RCV001156285 ; RCV002498427 ; RCV002464106
• dbSNP Id: rs71532874
• ExAC: 4:6304133 G / A
• gnomAD v2: 4-6304133-G-A
• gnomAD v3: 4-6302406-G-A
• gnomAD v4: 4-6302406-G-A
• MyVariant Identifiers: chr4:g.6304133G>A (hg19) ; chr4:g.6302406G>A (hg38)
• PubMed: PMID:12107816 ; PMID:15605410 ; PMID:20875904

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302406G>A , CM000666.2:g.6302406G>A	GRCh38
NC_000004.11:g.6304133G>A , CM000666.1:g.6304133G>A	GRCh37
NC_000004.10:g.6355034G>A	NCBI36
NG_011700.1:g.37557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2647G>A	ENSP00000507852.1:p.Val883Met
ENST00000683395.1:c.2588G>A
ENST00000684087.1:c.2611G>A	ENSP00000506978.1:p.Val871Met
ENST00000506362.2:c.2362G>A	ENSP00000424103.2:p.Val788Met
ENST00000673991.1:c.2647G>A	ENSP00000501033.1:p.Val883Met
ENST00000226760.5:c.2611G>A MANE Select	ENSP00000226760.1:p.Val871Met
ENST00000503569.5:c.2611G>A	ENSP00000423337.1:p.Val871Met
ENST00000507765.1:n.2796G>A
NM_001145853.1:c.2611G>A	NP_001139325.1:p.Val871Met
NM_006005.3:c.2611G>A MANE Select	NP_005996.2:p.Val871Met
XM_017008586.1:c.2620G>A	XP_016864075.1:p.Val874Met