Canonical Allele Identifier: CA1435768579
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291233T= , CM000666.2:g.6291233T= GRCh38
NC_000004.11:g.6292960T= , CM000666.1:g.6292960T= GRCh37
NC_000004.10:g.6343861T= NCBI36
NG_011700.1:g.26384T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.497T= ENSP00000507852.1:p.Leu166=
ENST00000683395.1:c.487T=
ENST00000684087.1:c.497T= ENSP00000506978.1:p.Leu166=
ENST00000684700.1:c.497T= ENSP00000507806.1:p.Leu166=
ENST00000506362.2:c.248T= ENSP00000424103.2:p.Leu83=
ENST00000673642.1:c.296T= ENSP00000501242.1:p.Leu99=
ENST00000673991.1:c.497T= ENSP00000501033.1:p.Leu166=
ENST00000674051.1:c.371T= ENSP00000501083.1:p.Leu124=
ENST00000226760.5:c.497T= MANE Select ENSP00000226760.1:p.Leu166=
ENST00000503569.5:c.497T= ENSP00000423337.1:p.Leu166=
ENST00000506362.1:c.94T=
ENST00000507765.1:n.682T=
NM_001145853.1:c.497T= NP_001139325.1:p.Leu166=
NM_006005.3:c.497T= MANE Select NP_005996.2:p.Leu166=
XM_017008586.1:c.506T= XP_016864075.1:p.Leu169=