Canonical Allele Identifier: CA282586

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6289021C>T , CM000666.2:g.6289021C>T	GRCh38
NC_000004.11:g.6290748C>T , CM000666.1:g.6290748C>T	GRCh37
NC_000004.10:g.6341649C>T	NCBI36
NG_011700.1:g.24172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.350C>T	ENSP00000507852.1:p.Thr117Met
ENST00000683395.1:c.340C>T
ENST00000684054.1:c.350C>T	ENSP00000507120.1:p.Thr117Met
ENST00000684087.1:c.350C>T	ENSP00000506978.1:p.Thr117Met
ENST00000684700.1:c.350C>T	ENSP00000507806.1:p.Thr117Met
ENST00000506362.2:c.101C>T	ENSP00000424103.2:p.Thr34Met
ENST00000673642.1:c.149C>T	ENSP00000501242.1:p.Thr50Met
ENST00000673991.1:c.350C>T	ENSP00000501033.1:p.Thr117Met
ENST00000674051.1:c.224C>T	ENSP00000501083.1:p.Thr75Met
ENST00000226760.5:c.350C>T MANE Select	ENSP00000226760.1:p.Thr117Met
ENST00000503569.5:c.350C>T	ENSP00000423337.1:p.Thr117Met
ENST00000507765.1:n.535C>T
NM_001145853.1:c.350C>T	NP_001139325.1:p.Thr117Met
NM_006005.3:c.350C>T MANE Select	NP_005996.2:p.Thr117Met
XM_017008586.1:c.359C>T	XP_016864075.1:p.Thr120Met