Canonical Allele Identifier: CA2838996

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1316628
• ClinVar RCV Id: RCV001775000
• dbSNP Id: rs149479911
• ExAC: 4:6293705 G / A
• gnomAD v2: 4-6293705-G-A
• gnomAD v4: 4-6291978-G-A
• MyVariant Identifiers: chr4:g.6293705G>A (hg19) ; chr4:g.6291978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291978G>A , CM000666.2:g.6291978G>A	GRCh38
NC_000004.11:g.6293705G>A , CM000666.1:g.6293705G>A	GRCh37
NC_000004.10:g.6344606G>A	NCBI36
NG_011700.1:g.27129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.693G>A	ENSP00000507852.1:p.Glu231=
ENST00000683395.1:c.670G>A
ENST00000684087.1:c.693G>A	ENSP00000506978.1:p.Glu231=
ENST00000506362.2:c.444G>A	ENSP00000424103.2:p.Glu148=
ENST00000673642.1:c.492G>A	ENSP00000501242.1:p.Glu164=
ENST00000673991.1:c.693G>A	ENSP00000501033.1:p.Glu231=
ENST00000226760.5:c.693G>A MANE Select	ENSP00000226760.1:p.Glu231=
ENST00000503569.5:c.693G>A	ENSP00000423337.1:p.Glu231=
ENST00000506362.1:c.290G>A
ENST00000507765.1:n.878G>A
NM_001145853.1:c.693G>A	NP_001139325.1:p.Glu231=
NM_006005.3:c.693G>A MANE Select	NP_005996.2:p.Glu231=
XM_017008586.1:c.702G>A	XP_016864075.1:p.Glu234=