Canonical Allele Identifier: CA2573138321
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1553342
ClinVar RCV Id: RCV002199367
dbSNP Id: rs1217194872

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300653C>G , CM000666.2:g.6300653C>G GRCh38
NC_000004.11:g.6302380C>G , CM000666.1:g.6302380C>G GRCh37
NC_000004.10:g.6353281C>G NCBI36
NG_011700.1:g.35804C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.898-4C>G ENSP00000507852.1:n.898-4C>G
ENST00000683395.1:c.839-4C>G
ENST00000684087.1:c.862-4C>G ENSP00000506978.1:n.862-4C>G
ENST00000506362.2:c.613-4C>G ENSP00000424103.2:n.613-4C>G
ENST00000673642.1:c.661-144C>G ENSP00000501242.1:n.661-144C>G
ENST00000673991.1:c.898-4C>G ENSP00000501033.1:n.898-4C>G
ENST00000226760.5:c.862-4C>G MANE Select ENSP00000226760.1:n.862-4C>G
ENST00000503569.5:c.862-4C>G ENSP00000423337.1:n.862-4C>G
ENST00000506362.1:c.495-4C>G
ENST00000507765.1:n.1047-4C>G
ENST00000513395.1:n.420-4C>G
NM_001145853.1:c.862-4C>G NP_001139325.1:n.862-4C>G
NM_006005.3:c.862-4C>G MANE Select NP_005996.2:n.862-4C>G
XM_017008586.1:c.871-4C>G XP_016864075.1:n.871-4C>G