Canonical Allele Identifier: CA356172322

Gene: WFS1

Linked Data

• dbSNP Id: rs149479911
• gnomAD v4: 4-6291978-G-T
• MyVariant Identifiers: chr4:g.6293705G>T (hg19) ; chr4:g.6291978G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.693G>T	ENSP00000507852.1:p.Glu231Asp
ENST00000683395.1:c.670G>T
ENST00000684087.1:c.693G>T	ENSP00000506978.1:p.Glu231Asp
ENST00000506362.2:c.444G>T	ENSP00000424103.2:p.Glu148Asp
ENST00000673642.1:c.492G>T	ENSP00000501242.1:p.Glu164Asp
ENST00000673991.1:c.693G>T	ENSP00000501033.1:p.Glu231Asp
ENST00000226760.5:c.693G>T MANE Select	ENSP00000226760.1:p.Glu231Asp
ENST00000503569.5:c.693G>T	ENSP00000423337.1:p.Glu231Asp
ENST00000506362.1:c.290G>T
ENST00000507765.1:n.878G>T
NM_001145853.1:c.693G>T	NP_001139325.1:p.Glu231Asp
NM_006005.3:c.693G>T MANE Select	NP_005996.2:p.Glu231Asp
XM_017008586.1:c.702G>T	XP_016864075.1:p.Glu234Asp