Canonical Allele Identifier: CA2839068

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6295145G>T , CM000666.2:g.6295145G>T	GRCh38
NC_000004.11:g.6296872G>T , CM000666.1:g.6296872G>T	GRCh37
NC_000004.10:g.6347773G>T	NCBI36
NG_011700.1:g.30296G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.817G>T MANE Select	NP_005996.2:p.Glu273Ter
ENST00000226760.5:c.817G>T MANE Select	ENSP00000226760.1:p.Glu273Ter
NM_001145853.1:c.817G>T	NP_001139325.1:p.Glu273Ter
ENST00000503569.5:c.817G>T	ENSP00000423337.1:p.Glu273Ter
ENST00000506362.1:c.450G>T
ENST00000506362.2:c.568G>T	ENSP00000424103.2:p.Glu190Ter
ENST00000507765.1:n.1002G>T
ENST00000513395.1:n.375G>T
ENST00000673642.1:c.616G>T	ENSP00000501242.1:p.Glu206Ter
ENST00000673991.1:c.853G>T	ENSP00000501033.1:p.Glu285Ter
ENST00000682275.1:c.853G>T	ENSP00000507852.1:p.Glu285Ter
ENST00000683395.1:c.794G>T
ENST00000684087.1:c.817G>T	ENSP00000506978.1:p.Glu273Ter
XM_017008586.1:c.826G>T	XP_016864075.1:p.Glu276Ter