Canonical Allele Identifier: CA8332517
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs536666264
gnomAD v2: 17-6684106-C-G
gnomAD v3: 17-6780787-C-G
gnomAD v4: 17-6780787-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780787C>G , CM000679.2:g.6780787C>G GRCh38
NC_000017.10:g.6684106C>G , CM000679.1:g.6684106C>G GRCh37
NC_000017.9:g.6624830C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.919C>G MANE Select ENSP00000321386.4:p.Pro307Ala
ENST00000321535.4:c.919C>G ENSP00000321386.4:p.Pro307Ala
NM_153230.2:c.919C>G NP_694962.1:p.Pro307Ala
XM_011523697.1:c.919C>G XP_011521999.1:p.Pro307Ala
XR_243544.3:n.1097C>G
NM_153230.3:c.919C>G MANE Select NP_694962.1:p.Pro307Ala