Canonical Allele Identifier: CA1435768588
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291250C= , CM000666.2:g.6291250C= GRCh38
NC_000004.11:g.6292977C= , CM000666.1:g.6292977C= GRCh37
NC_000004.10:g.6343878C= NCBI36
NG_011700.1:g.26401C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.514C= ENSP00000507852.1:p.Leu172=
ENST00000683395.1:c.504C=
ENST00000684087.1:c.514C= ENSP00000506978.1:p.Leu172=
ENST00000684700.1:c.514C= ENSP00000507806.1:p.Leu172=
ENST00000506362.2:c.265C= ENSP00000424103.2:p.Leu89=
ENST00000673642.1:c.313C= ENSP00000501242.1:p.Leu105=
ENST00000673991.1:c.514C= ENSP00000501033.1:p.Leu172=
ENST00000674051.1:c.388C= ENSP00000501083.1:p.Leu130=
ENST00000226760.5:c.514C= MANE Select ENSP00000226760.1:p.Leu172=
ENST00000503569.5:c.514C= ENSP00000423337.1:p.Leu172=
ENST00000506362.1:c.111C=
ENST00000507765.1:n.699C=
NM_001145853.1:c.514C= NP_001139325.1:p.Leu172=
NM_006005.3:c.514C= MANE Select NP_005996.2:p.Leu172=
XM_017008586.1:c.523C= XP_016864075.1:p.Leu175=