Canonical Allele Identifier: CA2760284126

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291592C>G , CM000666.2:g.6291592C>G	GRCh38
NC_000004.11:g.6293319C>G , CM000666.1:g.6293319C>G	GRCh37
NC_000004.10:g.6344220C>G	NCBI36
NG_011700.1:g.26743C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.631+225C>G	ENSP00000507852.1:n.631+225C>G
ENST00000683395.1:c.608+238C>G
ENST00000684087.1:c.631+225C>G	ENSP00000506978.1:n.631+225C>G
ENST00000684700.1:c.*151C>G	ENSP00000507806.1:n.*151C>G
ENST00000506362.2:c.382+225C>G	ENSP00000424103.2:n.382+225C>G
ENST00000673642.1:c.430+225C>G	ENSP00000501242.1:n.430+225C>G
ENST00000673991.1:c.631+225C>G	ENSP00000501033.1:n.631+225C>G
ENST00000226760.5:c.631+225C>G MANE Select	ENSP00000226760.1:n.631+225C>G
ENST00000503569.5:c.631+225C>G	ENSP00000423337.1:n.631+225C>G
ENST00000506362.1:c.228+225C>G
ENST00000507765.1:n.816+225C>G
NM_001145853.1:c.631+225C>G	NP_001139325.1:n.631+225C>G
NM_006005.3:c.631+225C>G MANE Select	NP_005996.2:n.631+225C>G
XM_017008586.1:c.640+225C>G	XP_016864075.1:n.640+225C>G