Canonical Allele Identifier: CA397761287
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1222740488
gnomAD v2: 17-6683767-G-A
gnomAD v4: 17-6780448-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780448G>A , CM000679.2:g.6780448G>A GRCh38
NC_000017.10:g.6683767G>A , CM000679.1:g.6683767G>A GRCh37
NC_000017.9:g.6624491G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.580G>A MANE Select ENSP00000321386.4:p.Val194Met
ENST00000321535.4:c.580G>A ENSP00000321386.4:p.Val194Met
NM_153230.2:c.580G>A NP_694962.1:p.Val194Met
XM_011523697.1:c.580G>A XP_011521999.1:p.Val194Met
XR_243544.3:n.758G>A
NM_153230.3:c.580G>A MANE Select NP_694962.1:p.Val194Met