Canonical Allele Identifier: CA8332524
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs779439278
gnomAD v2: 17-6684132-C-G
gnomAD v3: 17-6780813-C-G
gnomAD v4: 17-6780813-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780813C>G , CM000679.2:g.6780813C>G GRCh38
NC_000017.10:g.6684132C>G , CM000679.1:g.6684132C>G GRCh37
NC_000017.9:g.6624856C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.945C>G MANE Select ENSP00000321386.4:p.Ser315Arg
ENST00000321535.4:c.945C>G ENSP00000321386.4:p.Ser315Arg
NM_153230.2:c.945C>G NP_694962.1:p.Ser315Arg
XM_011523697.1:c.945C>G XP_011521999.1:p.Ser315Arg
XR_243544.3:n.1123C>G
NM_153230.3:c.945C>G MANE Select NP_694962.1:p.Ser315Arg