Canonical Allele Identifier: CA2760284135

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291601C>A , CM000666.2:g.6291601C>A	GRCh38
NC_000004.11:g.6293328C>A , CM000666.1:g.6293328C>A	GRCh37
NC_000004.10:g.6344229C>A	NCBI36
NG_011700.1:g.26752C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+234C>A	ENSP00000507852.1:n.631+234C>A
ENST00000683395.1:c.608+247C>A
ENST00000684087.1:c.631+234C>A	ENSP00000506978.1:n.631+234C>A
ENST00000684700.1:c.*160C>A	ENSP00000507806.1:n.*160C>A
ENST00000506362.2:c.382+234C>A	ENSP00000424103.2:n.382+234C>A
ENST00000673642.1:c.430+234C>A	ENSP00000501242.1:n.430+234C>A
ENST00000673991.1:c.631+234C>A	ENSP00000501033.1:n.631+234C>A
ENST00000226760.5:c.631+234C>A MANE Select	ENSP00000226760.1:n.631+234C>A
ENST00000503569.5:c.631+234C>A	ENSP00000423337.1:n.631+234C>A
ENST00000506362.1:c.228+234C>A
ENST00000507765.1:n.816+234C>A
NM_001145853.1:c.631+234C>A	NP_001139325.1:n.631+234C>A
NM_006005.3:c.631+234C>A MANE Select	NP_005996.2:n.631+234C>A
XM_017008586.1:c.640+234C>A	XP_016864075.1:n.640+234C>A