Canonical Allele Identifier: CA356178620
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302256A>C , CM000666.2:g.6302256A>C GRCh38
NC_000004.11:g.6303983A>C , CM000666.1:g.6303983A>C GRCh37
NC_000004.10:g.6354884A>C NCBI36
NG_011700.1:g.37407A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2497A>C ENSP00000507852.1:p.Ser833Arg
ENST00000683395.1:c.2438A>C
ENST00000684087.1:c.2461A>C ENSP00000506978.1:p.Ser821Arg
ENST00000506362.2:c.2212A>C ENSP00000424103.2:p.Ser738Arg
ENST00000673991.1:c.2497A>C ENSP00000501033.1:p.Ser833Arg
ENST00000226760.5:c.2461A>C MANE Select ENSP00000226760.1:p.Ser821Arg
ENST00000503569.5:c.2461A>C ENSP00000423337.1:p.Ser821Arg
ENST00000507765.1:n.2646A>C
NM_001145853.1:c.2461A>C NP_001139325.1:p.Ser821Arg
NM_006005.3:c.2461A>C MANE Select NP_005996.2:p.Ser821Arg
XM_017008586.1:c.2470A>C XP_016864075.1:p.Ser824Arg