Canonical Allele Identifier: CA2705213225

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6286883C>T , CM000666.2:g.6286883C>T	GRCh38
NC_000004.11:g.6288610C>T , CM000666.1:g.6288610C>T	GRCh37
NC_000004.10:g.6339511C>T	NCBI36
NG_011700.1:g.22034C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.233-210C>T MANE Select	NP_005996.2:n.233-210C>T
ENST00000226760.5:c.233-210C>T MANE Select	ENSP00000226760.1:n.233-210C>T
NM_001145853.1:c.233-210C>T	NP_001139325.1:n.233-210C>T
ENST00000503569.5:c.233-210C>T	ENSP00000423337.1:n.233-210C>T
ENST00000506362.2:c.-17-210C>T	ENSP00000424103.2:n.-17-210C>T
ENST00000506588.5:n.403-210C>T
ENST00000506588.6:n.403-210C>T
ENST00000673642.1:c.32-210C>T	ENSP00000501242.1:n.32-210C>T
ENST00000673991.1:c.233-210C>T	ENSP00000501033.1:n.233-210C>T
ENST00000674051.1:c.107-210C>T	ENSP00000501083.1:n.107-210C>T
ENST00000682275.1:c.233-210C>T	ENSP00000507852.1:n.233-210C>T
ENST00000683395.1:c.223-210C>T
ENST00000684054.1:c.233-210C>T	ENSP00000507120.1:n.233-210C>T
ENST00000684087.1:c.233-210C>T	ENSP00000506978.1:n.233-210C>T
ENST00000684700.1:c.233-210C>T	ENSP00000507806.1:n.233-210C>T
XM_017008586.1:c.242-210C>T	XP_016864075.1:n.242-210C>T