Canonical Allele Identifier: CA1058888805

Gene: WFS1

Linked Data

• dbSNP Id: rs1730461684
• gnomAD v3: 4-6291411-C-A
• gnomAD v4: 4-6291411-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291411C>A , CM000666.2:g.6291411C>A	GRCh38
NC_000004.11:g.6293138C>A , CM000666.1:g.6293138C>A	GRCh37
NC_000004.10:g.6344039C>A	NCBI36
NG_011700.1:g.26562C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.631+44C>A	ENSP00000507852.1:n.631+44C>A
ENST00000683395.1:c.608+57C>A
ENST00000684087.1:c.631+44C>A	ENSP00000506978.1:n.631+44C>A
ENST00000684700.1:c.675C>A	ENSP00000507806.1:p.Ser225Arg
ENST00000506362.2:c.382+44C>A	ENSP00000424103.2:n.382+44C>A
ENST00000673642.1:c.430+44C>A	ENSP00000501242.1:n.430+44C>A
ENST00000673991.1:c.631+44C>A	ENSP00000501033.1:n.631+44C>A
ENST00000226760.5:c.631+44C>A MANE Select	ENSP00000226760.1:n.631+44C>A
ENST00000503569.5:c.631+44C>A	ENSP00000423337.1:n.631+44C>A
ENST00000506362.1:c.228+44C>A
ENST00000507765.1:n.816+44C>A
NM_001145853.1:c.631+44C>A	NP_001139325.1:n.631+44C>A
NM_006005.3:c.631+44C>A MANE Select	NP_005996.2:n.631+44C>A
XM_017008586.1:c.640+44C>A	XP_016864075.1:n.640+44C>A