Canonical Allele Identifier: CA2839230
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259895
dbSNP Id: rs71530904
gnomAD v2: 4-6302656-C-G
gnomAD v3: 4-6300929-C-G
gnomAD v4: 4-6300929-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300929C>G , CM000666.2:g.6300929C>G GRCh38
NC_000004.11:g.6302656C>G , CM000666.1:g.6302656C>G GRCh37
NC_000004.10:g.6353557C>G NCBI36
NG_011700.1:g.36080C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.1170C>G ENSP00000507852.1:p.Thr390=
ENST00000683395.1:c.1111C>G
ENST00000684087.1:c.1134C>G ENSP00000506978.1:p.Thr378=
ENST00000506362.2:c.885C>G ENSP00000424103.2:p.Thr295=
ENST00000673642.1:c.793C>G ENSP00000501242.1:p.Arg265Gly
ENST00000673991.1:c.1170C>G ENSP00000501033.1:p.Thr390=
ENST00000226760.5:c.1134C>G MANE Select ENSP00000226760.1:p.Thr378=
ENST00000503569.5:c.1134C>G ENSP00000423337.1:p.Thr378=
ENST00000507765.1:n.1319C>G
NM_001145853.1:c.1134C>G NP_001139325.1:p.Thr378=
NM_006005.3:c.1134C>G MANE Select NP_005996.2:p.Thr378=
XM_017008586.1:c.1143C>G XP_016864075.1:p.Thr381=