Canonical Allele Identifier: CA2669825835
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2993679
ClinVar RCV Id: RCV003853254
gnomAD v4: 4-6291179-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291179C>G , CM000666.2:g.6291179C>G GRCh38
NC_000004.11:g.6292906C>G , CM000666.1:g.6292906C>G GRCh37
NC_000004.10:g.6343807C>G NCBI36
NG_011700.1:g.26330C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.461-18C>G ENSP00000507852.1:n.461-18C>G
ENST00000683395.1:c.451-18C>G
ENST00000684087.1:c.461-18C>G ENSP00000506978.1:n.461-18C>G
ENST00000684700.1:c.461-18C>G ENSP00000507806.1:n.461-18C>G
ENST00000506362.2:c.212-18C>G ENSP00000424103.2:n.212-18C>G
ENST00000673642.1:c.260-18C>G ENSP00000501242.1:n.260-18C>G
ENST00000673991.1:c.461-18C>G ENSP00000501033.1:n.461-18C>G
ENST00000674051.1:c.335-18C>G ENSP00000501083.1:n.335-18C>G
ENST00000226760.5:c.461-18C>G MANE Select ENSP00000226760.1:n.461-18C>G
ENST00000503569.5:c.461-18C>G ENSP00000423337.1:n.461-18C>G
ENST00000506362.1:c.58-18C>G
ENST00000507765.1:n.646-18C>G
NM_001145853.1:c.461-18C>G NP_001139325.1:n.461-18C>G
NM_006005.3:c.461-18C>G MANE Select NP_005996.2:n.461-18C>G
XM_017008586.1:c.470-18C>G XP_016864075.1:n.470-18C>G