Canonical Allele Identifier: CA2838920

Gene: WFS1

Linked Data

• dbSNP Id: rs752915831
• ExAC: 4:6292958 G / A
• gnomAD v2: 4-6292958-G-A
• gnomAD v4: 4-6291231-G-A
• MyVariant Identifiers: chr4:g.6292958G>A (hg19) ; chr4:g.6291231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291231G>A , CM000666.2:g.6291231G>A	GRCh38
NC_000004.11:g.6292958G>A , CM000666.1:g.6292958G>A	GRCh37
NC_000004.10:g.6343859G>A	NCBI36
NG_011700.1:g.26382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.495G>A	ENSP00000507852.1:p.Gln165=
ENST00000683395.1:c.485G>A
ENST00000684087.1:c.495G>A	ENSP00000506978.1:p.Gln165=
ENST00000684700.1:c.495G>A	ENSP00000507806.1:p.Gln165=
ENST00000506362.2:c.246G>A	ENSP00000424103.2:p.Gln82=
ENST00000673642.1:c.294G>A	ENSP00000501242.1:p.Gln98=
ENST00000673991.1:c.495G>A	ENSP00000501033.1:p.Gln165=
ENST00000674051.1:c.369G>A	ENSP00000501083.1:p.Gln123=
ENST00000226760.5:c.495G>A MANE Select	ENSP00000226760.1:p.Gln165=
ENST00000503569.5:c.495G>A	ENSP00000423337.1:p.Gln165=
ENST00000506362.1:c.92G>A
ENST00000507765.1:n.680G>A
NM_001145853.1:c.495G>A	NP_001139325.1:p.Gln165=
NM_006005.3:c.495G>A MANE Select	NP_005996.2:p.Gln165=
XM_017008586.1:c.504G>A	XP_016864075.1:p.Gln168=