Canonical Allele Identifier: CA356177906
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301946G>C , CM000666.2:g.6301946G>C GRCh38
NC_000004.11:g.6303673G>C , CM000666.1:g.6303673G>C GRCh37
NC_000004.10:g.6354574G>C NCBI36
NG_011700.1:g.37097G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2187G>C ENSP00000507852.1:p.Glu729Asp
ENST00000683395.1:c.2128G>C
ENST00000684087.1:c.2151G>C ENSP00000506978.1:p.Glu717Asp
ENST00000506362.2:c.1902G>C ENSP00000424103.2:p.Glu634Asp
ENST00000673642.1:c.1810G>C ENSP00000501242.1:n.1810G>C
ENST00000673991.1:c.2187G>C ENSP00000501033.1:p.Glu729Asp
ENST00000226760.5:c.2151G>C MANE Select ENSP00000226760.1:p.Glu717Asp
ENST00000503569.5:c.2151G>C ENSP00000423337.1:p.Glu717Asp
ENST00000507765.1:n.2336G>C
NM_001145853.1:c.2151G>C NP_001139325.1:p.Glu717Asp
NM_006005.3:c.2151G>C MANE Select NP_005996.2:p.Glu717Asp
XM_017008586.1:c.2160G>C XP_016864075.1:p.Glu720Asp