Canonical Allele Identifier: CA356177863

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301936A>T , CM000666.2:g.6301936A>T	GRCh38
NC_000004.11:g.6303663A>T , CM000666.1:g.6303663A>T	GRCh37
NC_000004.10:g.6354564A>T	NCBI36
NG_011700.1:g.37087A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2141A>T MANE Select	NP_005996.2:p.Asn714Ile
ENST00000226760.5:c.2141A>T MANE Select	ENSP00000226760.1:p.Asn714Ile
NM_001145853.1:c.2141A>T	NP_001139325.1:p.Asn714Ile
ENST00000503569.5:c.2141A>T	ENSP00000423337.1:p.Asn714Ile
ENST00000506362.2:c.1892A>T	ENSP00000424103.2:p.Asn631Ile
ENST00000507765.1:n.2326A>T
ENST00000673642.1:c.1800A>T	ENSP00000501242.1:n.1800A>T
ENST00000673991.1:c.2177A>T	ENSP00000501033.1:p.Asn726Ile
ENST00000682275.1:c.2177A>T	ENSP00000507852.1:p.Asn726Ile
ENST00000683395.1:c.2118A>T
ENST00000684087.1:c.2141A>T	ENSP00000506978.1:p.Asn714Ile
XM_017008586.1:c.2150A>T	XP_016864075.1:p.Asn717Ile