Canonical Allele Identifier: CA2838992
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs779791068
gnomAD v2: 4-6293694-C-T
gnomAD v3: 4-6291967-C-T
gnomAD v4: 4-6291967-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291967C>T , CM000666.2:g.6291967C>T GRCh38
NC_000004.11:g.6293694C>T , CM000666.1:g.6293694C>T GRCh37
NC_000004.10:g.6344595C>T NCBI36
NG_011700.1:g.27118C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.682C>T ENSP00000507852.1:p.Arg228Cys
ENST00000683395.1:c.659C>T
ENST00000684087.1:c.682C>T ENSP00000506978.1:p.Arg228Cys
ENST00000506362.2:c.433C>T ENSP00000424103.2:p.Arg145Cys
ENST00000673642.1:c.481C>T ENSP00000501242.1:p.Arg161Cys
ENST00000673991.1:c.682C>T ENSP00000501033.1:p.Arg228Cys
ENST00000226760.5:c.682C>T MANE Select ENSP00000226760.1:p.Arg228Cys
ENST00000503569.5:c.682C>T ENSP00000423337.1:p.Arg228Cys
ENST00000506362.1:c.279C>T
ENST00000507765.1:n.867C>T
NM_001145853.1:c.682C>T NP_001139325.1:p.Arg228Cys
NM_006005.3:c.682C>T MANE Select NP_005996.2:p.Arg228Cys
XM_017008586.1:c.691C>T XP_016864075.1:p.Arg231Cys