Canonical Allele Identifier: CA276183

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302058T>C , CM000666.2:g.6302058T>C	GRCh38
NC_000004.11:g.6303785T>C , CM000666.1:g.6303785T>C	GRCh37
NC_000004.10:g.6354686T>C	NCBI36
NG_011700.1:g.37209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2299T>C	ENSP00000507852.1:p.Cys767Arg
ENST00000683395.1:c.2240T>C
ENST00000684087.1:c.2263T>C	ENSP00000506978.1:p.Cys755Arg
ENST00000506362.2:c.2014T>C	ENSP00000424103.2:p.Cys672Arg
ENST00000673642.1:c.1922T>C	ENSP00000501242.1:n.1922T>C
ENST00000673991.1:c.2299T>C	ENSP00000501033.1:p.Cys767Arg
ENST00000226760.5:c.2263T>C MANE Select	ENSP00000226760.1:p.Cys755Arg
ENST00000503569.5:c.2263T>C	ENSP00000423337.1:p.Cys755Arg
ENST00000507765.1:n.2448T>C
NM_001145853.1:c.2263T>C	NP_001139325.1:p.Cys755Arg
NM_006005.3:c.2263T>C MANE Select	NP_005996.2:p.Cys755Arg
XM_017008586.1:c.2272T>C	XP_016864075.1:p.Cys758Arg