Canonical Allele Identifier: CA356174590
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301071T>C , CM000666.2:g.6301071T>C GRCh38
NC_000004.11:g.6302798T>C , CM000666.1:g.6302798T>C GRCh37
NC_000004.10:g.6353699T>C NCBI36
NG_011700.1:g.36222T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.1312T>C ENSP00000507852.1:p.Cys438Arg
ENST00000683395.1:c.1253T>C
ENST00000684087.1:c.1276T>C ENSP00000506978.1:p.Cys426Arg
ENST00000506362.2:c.1027T>C ENSP00000424103.2:p.Cys343Arg
ENST00000673642.1:c.935T>C ENSP00000501242.1:p.Leu312Pro
ENST00000673991.1:c.1312T>C ENSP00000501033.1:p.Cys438Arg
ENST00000226760.5:c.1276T>C MANE Select ENSP00000226760.1:p.Cys426Arg
ENST00000503569.5:c.1276T>C ENSP00000423337.1:p.Cys426Arg
ENST00000507765.1:n.1461T>C
NM_001145853.1:c.1276T>C NP_001139325.1:p.Cys426Arg
NM_006005.3:c.1276T>C MANE Select NP_005996.2:p.Cys426Arg
XM_017008586.1:c.1285T>C XP_016864075.1:p.Cys429Arg