Canonical Allele Identifier: CA215002

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301180A>G , CM000666.2:g.6301180A>G	GRCh38
NC_000004.11:g.6302907A>G , CM000666.1:g.6302907A>G	GRCh37
NC_000004.10:g.6353808A>G	NCBI36
NG_011700.1:g.36331A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1385A>G MANE Select	NP_005996.2:p.Glu462Gly
ENST00000226760.5:c.1385A>G MANE Select	ENSP00000226760.1:p.Glu462Gly
NM_001145853.1:c.1385A>G	NP_001139325.1:p.Glu462Gly
ENST00000503569.5:c.1385A>G	ENSP00000423337.1:p.Glu462Gly
ENST00000506362.2:c.1136A>G	ENSP00000424103.2:p.Glu379Gly
ENST00000507765.1:n.1570A>G
ENST00000673642.1:c.1044A>G	ENSP00000501242.1:p.Arg348=
ENST00000673991.1:c.1421A>G	ENSP00000501033.1:p.Glu474Gly
ENST00000682275.1:c.1421A>G	ENSP00000507852.1:p.Glu474Gly
ENST00000683395.1:c.1362A>G
ENST00000684087.1:c.1385A>G	ENSP00000506978.1:p.Glu462Gly
XM_017008586.1:c.1394A>G	XP_016864075.1:p.Glu465Gly