Canonical Allele Identifier: CA356173830
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300688A>G , CM000666.2:g.6300688A>G GRCh38
NC_000004.11:g.6302415A>G , CM000666.1:g.6302415A>G GRCh37
NC_000004.10:g.6353316A>G NCBI36
NG_011700.1:g.35839A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.929A>G ENSP00000507852.1:p.Glu310Gly
ENST00000683395.1:c.870A>G
ENST00000684087.1:c.893A>G ENSP00000506978.1:p.Glu298Gly
ENST00000506362.2:c.644A>G ENSP00000424103.2:p.Glu215Gly
ENST00000673642.1:c.661-109A>G ENSP00000501242.1:n.661-109A>G
ENST00000673991.1:c.929A>G ENSP00000501033.1:p.Glu310Gly
ENST00000226760.5:c.893A>G MANE Select ENSP00000226760.1:p.Glu298Gly
ENST00000503569.5:c.893A>G ENSP00000423337.1:p.Glu298Gly
ENST00000506362.1:c.526A>G
ENST00000507765.1:n.1078A>G
ENST00000513395.1:n.451A>G
NM_001145853.1:c.893A>G NP_001139325.1:p.Glu298Gly
NM_006005.3:c.893A>G MANE Select NP_005996.2:p.Glu298Gly
XM_017008586.1:c.902A>G XP_016864075.1:p.Glu301Gly