Canonical Allele Identifier: CA1435773206
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301311C= , CM000666.2:g.6301311C= GRCh38
NC_000004.11:g.6303038C= , CM000666.1:g.6303038C= GRCh37
NC_000004.10:g.6353939C= NCBI36
NG_011700.1:g.36462C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1552C= ENSP00000507852.1:p.Leu518=
ENST00000683395.1:c.1493C=
ENST00000684087.1:c.1516C= ENSP00000506978.1:p.Leu506=
ENST00000506362.2:c.1267C= ENSP00000424103.2:p.Leu423=
ENST00000673642.1:c.1175C= ENSP00000501242.1:p.Pro392=
ENST00000673991.1:c.1552C= ENSP00000501033.1:p.Leu518=
ENST00000226760.5:c.1516C= MANE Select ENSP00000226760.1:p.Leu506=
ENST00000503569.5:c.1516C= ENSP00000423337.1:p.Leu506=
ENST00000507765.1:n.1701C=
NM_001145853.1:c.1516C= NP_001139325.1:p.Leu506=
NM_006005.3:c.1516C= MANE Select NP_005996.2:p.Leu506=
XM_017008586.1:c.1525C= XP_016864075.1:p.Leu509=