Canonical Allele Identifier: CA2839181

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300780T>A , CM000666.2:g.6300780T>A	GRCh38
NC_000004.11:g.6302507T>A , CM000666.1:g.6302507T>A	GRCh37
NC_000004.10:g.6353408T>A	NCBI36
NG_011700.1:g.35931T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.985T>A MANE Select	NP_005996.2:p.Phe329Ile
ENST00000226760.5:c.985T>A MANE Select	ENSP00000226760.1:p.Phe329Ile
NM_001145853.1:c.985T>A	NP_001139325.1:p.Phe329Ile
ENST00000503569.5:c.985T>A	ENSP00000423337.1:p.Phe329Ile
ENST00000506362.1:c.618T>A
ENST00000506362.2:c.736T>A	ENSP00000424103.2:p.Phe246Ile
ENST00000507765.1:n.1170T>A
ENST00000513395.1:n.543T>A
ENST00000673642.1:c.661-17T>A	ENSP00000501242.1:n.661-17T>A
ENST00000673991.1:c.1021T>A	ENSP00000501033.1:p.Phe341Ile
ENST00000682275.1:c.1021T>A	ENSP00000507852.1:p.Phe341Ile
ENST00000683395.1:c.962T>A
ENST00000684087.1:c.985T>A	ENSP00000506978.1:p.Phe329Ile
XM_017008586.1:c.994T>A	XP_016864075.1:p.Phe332Ile