Canonical Allele Identifier: CA1435762582
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6277585C= , CM000666.2:g.6277585C= GRCh38
NC_000004.11:g.6279312C= , CM000666.1:g.6279312C= GRCh37
NC_000004.10:g.6330213C= NCBI36
NG_011700.1:g.12736C=

Transcript Alleles

HGVS Amino-acid change
ENST00000506588.6:n.300C=
ENST00000682059.1:c.130C= ENSP00000507988.1:p.Pro44=
ENST00000682275.1:c.130C= ENSP00000507852.1:p.Pro44=
ENST00000683395.1:c.120C=
ENST00000684054.1:c.130C= ENSP00000507120.1:p.Pro44=
ENST00000684087.1:c.130C= ENSP00000506978.1:p.Pro44=
ENST00000684700.1:c.130C= ENSP00000507806.1:p.Pro44=
ENST00000506362.2:c.-18+7571C= ENSP00000424103.2:n.-18+7571C=
ENST00000673991.1:c.130C= ENSP00000501033.1:p.Pro44=
ENST00000674051.1:c.67-63C= ENSP00000501083.1:n.67-63C=
ENST00000226760.5:c.130C= MANE Select ENSP00000226760.1:p.Pro44=
ENST00000503569.5:c.130C= ENSP00000423337.1:p.Pro44=
ENST00000506588.5:n.300C=
NM_001145853.1:c.130C= NP_001139325.1:p.Pro44=
NM_006005.3:c.130C= MANE Select NP_005996.2:p.Pro44=
XM_017008586.1:c.139C= XP_016864075.1:p.Pro47=