Canonical Allele Identifier: CA2839409
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2011865
ClinVar RCV Id: RCV002838731
dbSNP Id: rs764128887
gnomAD v2: 4-6303103-C-G
gnomAD v4: 4-6301376-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301376C>G , CM000666.2:g.6301376C>G GRCh38
NC_000004.11:g.6303103C>G , CM000666.1:g.6303103C>G GRCh37
NC_000004.10:g.6354004C>G NCBI36
NG_011700.1:g.36527C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1617C>G ENSP00000507852.1:p.Thr539=
ENST00000683395.1:c.1558C>G
ENST00000684087.1:c.1581C>G ENSP00000506978.1:p.Thr527=
ENST00000506362.2:c.1332C>G ENSP00000424103.2:p.Thr444=
ENST00000673642.1:c.1240C>G ENSP00000501242.1:p.Leu414Val
ENST00000673991.1:c.1617C>G ENSP00000501033.1:p.Thr539=
ENST00000226760.5:c.1581C>G MANE Select ENSP00000226760.1:p.Thr527=
ENST00000503569.5:c.1581C>G ENSP00000423337.1:p.Thr527=
ENST00000507765.1:n.1766C>G
NM_001145853.1:c.1581C>G NP_001139325.1:p.Thr527=
NM_006005.3:c.1581C>G MANE Select NP_005996.2:p.Thr527=
XM_017008586.1:c.1590C>G XP_016864075.1:p.Thr530=