Canonical Allele Identifier: CA356171878
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291221A>G , CM000666.2:g.6291221A>G GRCh38
NC_000004.11:g.6292948A>G , CM000666.1:g.6292948A>G GRCh37
NC_000004.10:g.6343849A>G NCBI36
NG_011700.1:g.26372A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.485A>G ENSP00000507852.1:p.Glu162Gly
ENST00000683395.1:c.475A>G
ENST00000684087.1:c.485A>G ENSP00000506978.1:p.Glu162Gly
ENST00000684700.1:c.485A>G ENSP00000507806.1:p.Glu162Gly
ENST00000506362.2:c.236A>G ENSP00000424103.2:p.Glu79Gly
ENST00000673642.1:c.284A>G ENSP00000501242.1:p.Glu95Gly
ENST00000673991.1:c.485A>G ENSP00000501033.1:p.Glu162Gly
ENST00000674051.1:c.359A>G ENSP00000501083.1:p.Glu120Gly
ENST00000226760.5:c.485A>G MANE Select ENSP00000226760.1:p.Glu162Gly
ENST00000503569.5:c.485A>G ENSP00000423337.1:p.Glu162Gly
ENST00000506362.1:c.82A>G
ENST00000507765.1:n.670A>G
NM_001145853.1:c.485A>G NP_001139325.1:p.Glu162Gly
NM_006005.3:c.485A>G MANE Select NP_005996.2:p.Glu162Gly
XM_017008586.1:c.494A>G XP_016864075.1:p.Glu165Gly