Canonical Allele Identifier: CA261748

Gene: WFS1

Linked Data

• ClinVar Variation Id: 45443
• ClinVar RCV Id: RCV000038647 ; RCV000196272 ; RCV001174425 ; RCV002513507 ; RCV003125863
• dbSNP Id: rs146670741
• ExAC: 4:6303408 G / A
• gnomAD v2: 4-6303408-G-A
• gnomAD v3: 4-6301681-G-A
• gnomAD v4: 4-6301681-G-A
• MyVariant Identifiers: chr4:g.6303408G>A (hg19) ; chr4:g.6301681G>A (hg38)
• PubMed: PMID:11811080 ; PMID:12913071

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301681G>A , CM000666.2:g.6301681G>A	GRCh38
NC_000004.11:g.6303408G>A , CM000666.1:g.6303408G>A	GRCh37
NC_000004.10:g.6354309G>A	NCBI36
NG_011700.1:g.36832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1922G>A	ENSP00000507852.1:p.Arg641Gln
ENST00000683395.1:c.1863G>A
ENST00000684087.1:c.1886G>A	ENSP00000506978.1:p.Arg629Gln
ENST00000506362.2:c.1637G>A	ENSP00000424103.2:p.Arg546Gln
ENST00000673642.1:c.1545G>A	ENSP00000501242.1:n.1545G>A
ENST00000673991.1:c.1922G>A	ENSP00000501033.1:p.Arg641Gln
ENST00000226760.5:c.1886G>A MANE Select	ENSP00000226760.1:p.Arg629Gln
ENST00000503569.5:c.1886G>A	ENSP00000423337.1:p.Arg629Gln
ENST00000507765.1:n.2071G>A
NM_001145853.1:c.1886G>A	NP_001139325.1:p.Arg629Gln
NM_006005.3:c.1886G>A MANE Select	NP_005996.2:p.Arg629Gln
XM_017008586.1:c.1895G>A	XP_016864075.1:p.Arg632Gln