Canonical Allele Identifier: CA2839644

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302001G>A , CM000666.2:g.6302001G>A	GRCh38
NC_000004.11:g.6303728G>A , CM000666.1:g.6303728G>A	GRCh37
NC_000004.10:g.6354629G>A	NCBI36
NG_011700.1:g.37152G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2206G>A MANE Select	NP_005996.2:p.Gly736Ser
ENST00000226760.5:c.2206G>A MANE Select	ENSP00000226760.1:p.Gly736Ser
NM_001145853.1:c.2206G>A	NP_001139325.1:p.Gly736Ser
ENST00000503569.5:c.2206G>A	ENSP00000423337.1:p.Gly736Ser
ENST00000506362.2:c.1957G>A	ENSP00000424103.2:p.Gly653Ser
ENST00000507765.1:n.2391G>A
ENST00000673642.1:c.1865G>A	ENSP00000501242.1:n.1865G>A
ENST00000673991.1:c.2242G>A	ENSP00000501033.1:p.Gly748Ser
ENST00000682275.1:c.2242G>A	ENSP00000507852.1:p.Gly748Ser
ENST00000683395.1:c.2183G>A
ENST00000684087.1:c.2206G>A	ENSP00000506978.1:p.Gly736Ser
XM_017008586.1:c.2215G>A	XP_016864075.1:p.Gly739Ser