Canonical Allele Identifier: CA1435773428

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301388T= , CM000666.2:g.6301388T=	GRCh38
NC_000004.11:g.6303115T= , CM000666.1:g.6303115T=	GRCh37
NC_000004.10:g.6354016T=	NCBI36
NG_011700.1:g.36539T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1629T=	ENSP00000507852.1:p.Leu543=
ENST00000683395.1:c.1570T=
ENST00000684087.1:c.1593T=	ENSP00000506978.1:p.Leu531=
ENST00000506362.2:c.1344T=	ENSP00000424103.2:p.Leu448=
ENST00000673642.1:c.1252T=	ENSP00000501242.1:p.Cys418=
ENST00000673991.1:c.1629T=	ENSP00000501033.1:p.Leu543=
ENST00000226760.5:c.1593T= MANE Select	ENSP00000226760.1:p.Leu531=
ENST00000503569.5:c.1593T=	ENSP00000423337.1:p.Leu531=
ENST00000507765.1:n.1778T=
NM_001145853.1:c.1593T=	NP_001139325.1:p.Leu531=
NM_006005.3:c.1593T= MANE Select	NP_005996.2:p.Leu531=
XM_017008586.1:c.1602T=	XP_016864075.1:p.Leu534=