Canonical Allele Identifier: CA356178240
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302054G>T , CM000666.2:g.6302054G>T GRCh38
NC_000004.11:g.6303781G>T , CM000666.1:g.6303781G>T GRCh37
NC_000004.10:g.6354682G>T NCBI36
NG_011700.1:g.37205G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2295G>T ENSP00000507852.1:p.Glu765Asp
ENST00000683395.1:c.2236G>T
ENST00000684087.1:c.2259G>T ENSP00000506978.1:p.Glu753Asp
ENST00000506362.2:c.2010G>T ENSP00000424103.2:p.Glu670Asp
ENST00000673642.1:c.1918G>T ENSP00000501242.1:n.1918G>T
ENST00000673991.1:c.2295G>T ENSP00000501033.1:p.Glu765Asp
ENST00000226760.5:c.2259G>T MANE Select ENSP00000226760.1:p.Glu753Asp
ENST00000503569.5:c.2259G>T ENSP00000423337.1:p.Glu753Asp
ENST00000507765.1:n.2444G>T
NM_001145853.1:c.2259G>T NP_001139325.1:p.Glu753Asp
NM_006005.3:c.2259G>T MANE Select NP_005996.2:p.Glu753Asp
XM_017008586.1:c.2268G>T XP_016864075.1:p.Glu756Asp