Canonical Allele Identifier: CA356171855

Gene: WFS1

Linked Data

• gnomAD v4: 4-6291210-G-T
• COSMIC: COSM4799978
• MyVariant Identifiers: chr4:g.6292937G>T (hg19) ; chr4:g.6291210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291210G>T , CM000666.2:g.6291210G>T	GRCh38
NC_000004.11:g.6292937G>T , CM000666.1:g.6292937G>T	GRCh37
NC_000004.10:g.6343838G>T	NCBI36
NG_011700.1:g.26361G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.474G>T	ENSP00000507852.1:p.Glu158Asp
ENST00000683395.1:c.464G>T
ENST00000684087.1:c.474G>T	ENSP00000506978.1:p.Glu158Asp
ENST00000684700.1:c.474G>T	ENSP00000507806.1:p.Glu158Asp
ENST00000506362.2:c.225G>T	ENSP00000424103.2:p.Glu75Asp
ENST00000673642.1:c.273G>T	ENSP00000501242.1:p.Glu91Asp
ENST00000673991.1:c.474G>T	ENSP00000501033.1:p.Glu158Asp
ENST00000674051.1:c.348G>T	ENSP00000501083.1:p.Glu116Asp
ENST00000226760.5:c.474G>T MANE Select	ENSP00000226760.1:p.Glu158Asp
ENST00000503569.5:c.474G>T	ENSP00000423337.1:p.Glu158Asp
ENST00000506362.1:c.71G>T
ENST00000507765.1:n.659G>T
NM_001145853.1:c.474G>T	NP_001139325.1:p.Glu158Asp
NM_006005.3:c.474G>T MANE Select	NP_005996.2:p.Glu158Asp
XM_017008586.1:c.483G>T	XP_016864075.1:p.Glu161Asp