Canonical Allele Identifier: CA397762380
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1567671063
gnomAD v2: 17-6684008-C-T
gnomAD v3: 17-6780689-C-T
gnomAD v4: 17-6780689-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780689C>T , CM000679.2:g.6780689C>T GRCh38
NC_000017.10:g.6684008C>T , CM000679.1:g.6684008C>T GRCh37
NC_000017.9:g.6624732C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.821C>T MANE Select ENSP00000321386.4:p.Ala274Val
ENST00000321535.4:c.821C>T ENSP00000321386.4:p.Ala274Val
NM_153230.2:c.821C>T NP_694962.1:p.Ala274Val
XM_011523697.1:c.821C>T XP_011521999.1:p.Ala274Val
XR_243544.3:n.999C>T
NM_153230.3:c.821C>T MANE Select NP_694962.1:p.Ala274Val