Canonical Allele Identifier: CA2573138320
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1591357
ClinVar RCV Id: RCV002107643
dbSNP Id: rs2109124883

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300641A>G , CM000666.2:g.6300641A>G GRCh38
NC_000004.11:g.6302368A>G , CM000666.1:g.6302368A>G GRCh37
NC_000004.10:g.6353269A>G NCBI36
NG_011700.1:g.35792A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.898-16A>G ENSP00000507852.1:n.898-16A>G
ENST00000683395.1:c.839-16A>G
ENST00000684087.1:c.862-16A>G ENSP00000506978.1:n.862-16A>G
ENST00000506362.2:c.613-16A>G ENSP00000424103.2:n.613-16A>G
ENST00000673642.1:c.661-156A>G ENSP00000501242.1:n.661-156A>G
ENST00000673991.1:c.898-16A>G ENSP00000501033.1:n.898-16A>G
ENST00000226760.5:c.862-16A>G MANE Select ENSP00000226760.1:n.862-16A>G
ENST00000503569.5:c.862-16A>G ENSP00000423337.1:n.862-16A>G
ENST00000506362.1:c.495-16A>G
ENST00000507765.1:n.1047-16A>G
ENST00000513395.1:n.420-16A>G
NM_001145853.1:c.862-16A>G NP_001139325.1:n.862-16A>G
NM_006005.3:c.862-16A>G MANE Select NP_005996.2:n.862-16A>G
XM_017008586.1:c.871-16A>G XP_016864075.1:n.871-16A>G