Canonical Allele Identifier: CA2839699

Gene: WFS1

Linked Data

• dbSNP Id: rs748900529
• ExAC: 4:6303882 C / A
• gnomAD v2: 4-6303882-C-A
• gnomAD v3: 4-6302155-C-A
• gnomAD v4: 4-6302155-C-A
• MyVariant Identifiers: chr4:g.6303882C>A (hg19) ; chr4:g.6302155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302155C>A , CM000666.2:g.6302155C>A	GRCh38
NC_000004.11:g.6303882C>A , CM000666.1:g.6303882C>A	GRCh37
NC_000004.10:g.6354783C>A	NCBI36
NG_011700.1:g.37306C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2396C>A	ENSP00000507852.1:p.Ala799Asp
ENST00000683395.1:c.2337C>A
ENST00000684087.1:c.2360C>A	ENSP00000506978.1:p.Ala787Asp
ENST00000506362.2:c.2111C>A	ENSP00000424103.2:p.Ala704Asp
ENST00000673991.1:c.2396C>A	ENSP00000501033.1:p.Ala799Asp
ENST00000226760.5:c.2360C>A MANE Select	ENSP00000226760.1:p.Ala787Asp
ENST00000503569.5:c.2360C>A	ENSP00000423337.1:p.Ala787Asp
ENST00000507765.1:n.2545C>A
NM_001145853.1:c.2360C>A	NP_001139325.1:p.Ala787Asp
NM_006005.3:c.2360C>A MANE Select	NP_005996.2:p.Ala787Asp
XM_017008586.1:c.2369C>A	XP_016864075.1:p.Ala790Asp