Canonical Allele Identifier: CA91787597

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277687G>A , CM000666.2:g.6277687G>A	GRCh38
NC_000004.11:g.6279414G>A , CM000666.1:g.6279414G>A	GRCh37
NC_000004.10:g.6330315G>A	NCBI36
NG_011700.1:g.12838G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.232G>A MANE Select	NP_005996.2:p.Gly78Arg
ENST00000226760.5:c.232G>A MANE Select	ENSP00000226760.1:p.Gly78Arg
NM_001145853.1:c.232G>A	NP_001139325.1:p.Gly78Arg
ENST00000503569.5:c.232G>A	ENSP00000423337.1:p.Gly78Arg
ENST00000506362.2:c.-18+7673G>A	ENSP00000424103.2:n.-18+7673G>A
ENST00000506588.5:n.402G>A
ENST00000506588.6:n.402G>A
ENST00000673642.1:c.31G>A	ENSP00000501242.1:p.Gly11Arg
ENST00000673991.1:c.232G>A	ENSP00000501033.1:p.Gly78Arg
ENST00000674051.1:c.106G>A	ENSP00000501083.1:p.Gly36Arg
ENST00000682059.1:c.232G>A	ENSP00000507988.1:p.Glu78Lys
ENST00000682275.1:c.232G>A	ENSP00000507852.1:p.Gly78Arg
ENST00000683395.1:c.222G>A
ENST00000684054.1:c.232G>A	ENSP00000507120.1:p.Gly78Arg
ENST00000684087.1:c.232G>A	ENSP00000506978.1:p.Gly78Arg
ENST00000684700.1:c.232G>A	ENSP00000507806.1:p.Gly78Arg
XM_017008586.1:c.241G>A	XP_016864075.1:p.Gly81Arg