Canonical Allele Identifier: CA1435772266
Community Standard Title: NM_006005.3(WFS1):c.2254G= (p.Glu752=)
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302049G= , CM000666.2:g.6302049G= GRCh38
NC_000004.11:g.6303776G= , CM000666.1:g.6303776G= GRCh37
NC_000004.10:g.6354677G= NCBI36
NG_011700.1:g.37200G=

Transcript Alleles

HGVS Amino-acid Change
NM_006005.3:c.2254G= MANE Select NP_005996.2:p.Glu752=
ENST00000226760.5:c.2254G= MANE Select ENSP00000226760.1:p.Glu752=
NM_001145853.1:c.2254G= NP_001139325.1:p.Glu752=
ENST00000503569.5:c.2254G= ENSP00000423337.1:p.Glu752=
ENST00000506362.2:c.2005G= ENSP00000424103.2:p.Glu669=
ENST00000507765.1:n.2439G=
ENST00000673642.1:c.1913G= ENSP00000501242.1:n.1913G=
ENST00000673991.1:c.2290G= ENSP00000501033.1:p.Glu764=
ENST00000682275.1:c.2290G= ENSP00000507852.1:p.Glu764=
ENST00000683395.1:c.2231G=
ENST00000684087.1:c.2254G= ENSP00000506978.1:p.Glu752=
XM_017008586.1:c.2263G= XP_016864075.1:p.Glu755=