Canonical Allele Identifier: CA8332456
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs778139105
gnomAD v2: 17-6683835-C-G
gnomAD v3: 17-6780516-C-G
gnomAD v4: 17-6780516-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780516C>G , CM000679.2:g.6780516C>G GRCh38
NC_000017.10:g.6683835C>G , CM000679.1:g.6683835C>G GRCh37
NC_000017.9:g.6624559C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.648C>G MANE Select ENSP00000321386.4:p.Phe216Leu
ENST00000321535.4:c.648C>G ENSP00000321386.4:p.Phe216Leu
NM_153230.2:c.648C>G NP_694962.1:p.Phe216Leu
XM_011523697.1:c.648C>G XP_011521999.1:p.Phe216Leu
XR_243544.3:n.826C>G
NM_153230.3:c.648C>G MANE Select NP_694962.1:p.Phe216Leu