Canonical Allele Identifier: CA1435772079

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300738C= , CM000666.2:g.6300738C=	GRCh38
NC_000004.11:g.6302465C= , CM000666.1:g.6302465C=	GRCh37
NC_000004.10:g.6353366C=	NCBI36
NG_011700.1:g.35889C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.979C=	ENSP00000507852.1:p.Leu327=
ENST00000683395.1:c.920C=
ENST00000684087.1:c.943C=	ENSP00000506978.1:p.Leu315=
ENST00000506362.2:c.694C=	ENSP00000424103.2:p.Leu232=
ENST00000673642.1:c.661-59C=	ENSP00000501242.1:n.661-59C=
ENST00000673991.1:c.979C=	ENSP00000501033.1:p.Leu327=
ENST00000226760.5:c.943C= MANE Select	ENSP00000226760.1:p.Leu315=
ENST00000503569.5:c.943C=	ENSP00000423337.1:p.Leu315=
ENST00000506362.1:c.576C=
ENST00000507765.1:n.1128C=
ENST00000513395.1:n.501C=
NM_001145853.1:c.943C=	NP_001139325.1:p.Leu315=
NM_006005.3:c.943C= MANE Select	NP_005996.2:p.Leu315=
XM_017008586.1:c.952C=	XP_016864075.1:p.Leu318=