Canonical Allele Identifier: CA356172140

Gene: WFS1

Linked Data

• dbSNP Id: rs1345647286
• gnomAD v2: 4-6293073-G-A
• gnomAD v3: 4-6291346-G-A
• gnomAD v4: 4-6291346-G-A
• MyVariant Identifiers: chr4:g.6293073G>A (hg19) ; chr4:g.6291346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291346G>A , CM000666.2:g.6291346G>A	GRCh38
NC_000004.11:g.6293073G>A , CM000666.1:g.6293073G>A	GRCh37
NC_000004.10:g.6343974G>A	NCBI36
NG_011700.1:g.26497G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.610G>A	ENSP00000507852.1:p.Val204Ile
ENST00000683395.1:c.600G>A
ENST00000684087.1:c.610G>A	ENSP00000506978.1:p.Val204Ile
ENST00000684700.1:c.610G>A	ENSP00000507806.1:p.Val204Ile
ENST00000506362.2:c.361G>A	ENSP00000424103.2:p.Val121Ile
ENST00000673642.1:c.409G>A	ENSP00000501242.1:p.Val137Ile
ENST00000673991.1:c.610G>A	ENSP00000501033.1:p.Val204Ile
ENST00000226760.5:c.610G>A MANE Select	ENSP00000226760.1:p.Val204Ile
ENST00000503569.5:c.610G>A	ENSP00000423337.1:p.Val204Ile
ENST00000506362.1:c.207G>A
ENST00000507765.1:n.795G>A
NM_001145853.1:c.610G>A	NP_001139325.1:p.Val204Ile
NM_006005.3:c.610G>A MANE Select	NP_005996.2:p.Val204Ile
XM_017008586.1:c.619G>A	XP_016864075.1:p.Val207Ile