Canonical Allele Identifier: CA253203

Gene: WFS1

Linked Data

• ClinVar Variation Id: 4523
• ClinVar RCV Id: RCV000004781 ; RCV000521055
• dbSNP Id: rs28937895
• ExAC: 4:6304014 G / A
• gnomAD v2: 4-6304014-G-A
• gnomAD v3: 4-6302287-G-A
• gnomAD v4: 4-6302287-G-A
• MyVariant Identifiers: chr4:g.6304014G>A (hg19) ; chr4:g.6302287G>A (hg38)
• PubMed: PMID:11709537 ; PMID:12073007

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302287G>A , CM000666.2:g.6302287G>A	GRCh38
NC_000004.11:g.6304014G>A , CM000666.1:g.6304014G>A	GRCh37
NC_000004.10:g.6354915G>A	NCBI36
NG_011700.1:g.37438G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2528G>A	ENSP00000507852.1:p.Gly843Asp
ENST00000683395.1:c.2469G>A
ENST00000684087.1:c.2492G>A	ENSP00000506978.1:p.Gly831Asp
ENST00000506362.2:c.2243G>A	ENSP00000424103.2:p.Gly748Asp
ENST00000673991.1:c.2528G>A	ENSP00000501033.1:p.Gly843Asp
ENST00000226760.5:c.2492G>A MANE Select	ENSP00000226760.1:p.Gly831Asp
ENST00000503569.5:c.2492G>A	ENSP00000423337.1:p.Gly831Asp
ENST00000507765.1:n.2677G>A
NM_001145853.1:c.2492G>A	NP_001139325.1:p.Gly831Asp
NM_006005.3:c.2492G>A MANE Select	NP_005996.2:p.Gly831Asp
XM_017008586.1:c.2501G>A	XP_016864075.1:p.Gly834Asp