Canonical Allele Identifier: CA1435768624

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291324C= , CM000666.2:g.6291324C=	GRCh38
NC_000004.11:g.6293051C= , CM000666.1:g.6293051C=	GRCh37
NC_000004.10:g.6343952C=	NCBI36
NG_011700.1:g.26475C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.588C=	ENSP00000507852.1:p.Ala196=
ENST00000683395.1:c.578C=
ENST00000684087.1:c.588C=	ENSP00000506978.1:p.Ala196=
ENST00000684700.1:c.588C=	ENSP00000507806.1:p.Ala196=
ENST00000506362.2:c.339C=	ENSP00000424103.2:p.Ala113=
ENST00000673642.1:c.387C=	ENSP00000501242.1:p.Ala129=
ENST00000673991.1:c.588C=	ENSP00000501033.1:p.Ala196=
ENST00000226760.5:c.588C= MANE Select	ENSP00000226760.1:p.Ala196=
ENST00000503569.5:c.588C=	ENSP00000423337.1:p.Ala196=
ENST00000506362.1:c.185C=
ENST00000507765.1:n.773C=
NM_001145853.1:c.588C=	NP_001139325.1:p.Ala196=
NM_006005.3:c.588C= MANE Select	NP_005996.2:p.Ala196=
XM_017008586.1:c.597C=	XP_016864075.1:p.Ala199=