Canonical Allele Identifier: CA1435772270
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300842C= , CM000666.2:g.6300842C= GRCh38
NC_000004.11:g.6302569C= , CM000666.1:g.6302569C= GRCh37
NC_000004.10:g.6353470C= NCBI36
NG_011700.1:g.35993C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1083C= ENSP00000507852.1:p.Ile361=
ENST00000683395.1:c.1024C=
ENST00000684087.1:c.1047C= ENSP00000506978.1:p.Ile349=
ENST00000506362.2:c.798C= ENSP00000424103.2:p.Ile266=
ENST00000673642.1:c.706C= ENSP00000501242.1:p.Leu236=
ENST00000673991.1:c.1083C= ENSP00000501033.1:p.Ile361=
ENST00000226760.5:c.1047C= MANE Select ENSP00000226760.1:p.Ile349=
ENST00000503569.5:c.1047C= ENSP00000423337.1:p.Ile349=
ENST00000506362.1:c.680C=
ENST00000507765.1:n.1232C=
NM_001145853.1:c.1047C= NP_001139325.1:p.Ile349=
NM_006005.3:c.1047C= MANE Select NP_005996.2:p.Ile349=
XM_017008586.1:c.1056C= XP_016864075.1:p.Ile352=