Canonical Allele Identifier: CA356173848

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300696G>A , CM000666.2:g.6300696G>A	GRCh38
NC_000004.11:g.6302423G>A , CM000666.1:g.6302423G>A	GRCh37
NC_000004.10:g.6353324G>A	NCBI36
NG_011700.1:g.35847G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.901G>A MANE Select	NP_005996.2:p.Glu301Lys
ENST00000226760.5:c.901G>A MANE Select	ENSP00000226760.1:p.Glu301Lys
NM_001145853.1:c.901G>A	NP_001139325.1:p.Glu301Lys
ENST00000503569.5:c.901G>A	ENSP00000423337.1:p.Glu301Lys
ENST00000506362.1:c.534G>A
ENST00000506362.2:c.652G>A	ENSP00000424103.2:p.Glu218Lys
ENST00000507765.1:n.1086G>A
ENST00000513395.1:n.459G>A
ENST00000673642.1:c.661-101G>A	ENSP00000501242.1:n.661-101G>A
ENST00000673991.1:c.937G>A	ENSP00000501033.1:p.Glu313Lys
ENST00000682275.1:c.937G>A	ENSP00000507852.1:p.Glu313Lys
ENST00000683395.1:c.878G>A
ENST00000684087.1:c.901G>A	ENSP00000506978.1:p.Glu301Lys
XM_017008586.1:c.910G>A	XP_016864075.1:p.Glu304Lys