Canonical Allele Identifier: CA356178091

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301996T>A , CM000666.2:g.6301996T>A	GRCh38
NC_000004.11:g.6303723T>A , CM000666.1:g.6303723T>A	GRCh37
NC_000004.10:g.6354624T>A	NCBI36
NG_011700.1:g.37147T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2201T>A MANE Select	NP_005996.2:p.Leu734His
ENST00000226760.5:c.2201T>A MANE Select	ENSP00000226760.1:p.Leu734His
NM_001145853.1:c.2201T>A	NP_001139325.1:p.Leu734His
ENST00000503569.5:c.2201T>A	ENSP00000423337.1:p.Leu734His
ENST00000506362.2:c.1952T>A	ENSP00000424103.2:p.Leu651His
ENST00000507765.1:n.2386T>A
ENST00000673642.1:c.1860T>A	ENSP00000501242.1:n.1860T>A
ENST00000673991.1:c.2237T>A	ENSP00000501033.1:p.Leu746His
ENST00000682275.1:c.2237T>A	ENSP00000507852.1:p.Leu746His
ENST00000683395.1:c.2178T>A
ENST00000684087.1:c.2201T>A	ENSP00000506978.1:p.Leu734His
XM_017008586.1:c.2210T>A	XP_016864075.1:p.Leu737His