Canonical Allele Identifier: CA356172357
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291995A>G , CM000666.2:g.6291995A>G GRCh38
NC_000004.11:g.6293722A>G , CM000666.1:g.6293722A>G GRCh37
NC_000004.10:g.6344623A>G NCBI36
NG_011700.1:g.27146A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.710A>G ENSP00000507852.1:p.Glu237Gly
ENST00000683395.1:c.687A>G
ENST00000684087.1:c.710A>G ENSP00000506978.1:p.Glu237Gly
ENST00000506362.2:c.461A>G ENSP00000424103.2:p.Glu154Gly
ENST00000673642.1:c.509A>G ENSP00000501242.1:p.Glu170Gly
ENST00000673991.1:c.710A>G ENSP00000501033.1:p.Glu237Gly
ENST00000226760.5:c.710A>G MANE Select ENSP00000226760.1:p.Glu237Gly
ENST00000503569.5:c.710A>G ENSP00000423337.1:p.Glu237Gly
ENST00000506362.1:c.307A>G
ENST00000507765.1:n.895A>G
NM_001145853.1:c.710A>G NP_001139325.1:p.Glu237Gly
NM_006005.3:c.710A>G MANE Select NP_005996.2:p.Glu237Gly
XM_017008586.1:c.719A>G XP_016864075.1:p.Glu240Gly