Canonical Allele Identifier: CA8332457
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs754032139
gnomAD v2: 17-6683845-A-G
gnomAD v3: 17-6780526-A-G
gnomAD v4: 17-6780526-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780526A>G , CM000679.2:g.6780526A>G GRCh38
NC_000017.10:g.6683845A>G , CM000679.1:g.6683845A>G GRCh37
NC_000017.9:g.6624569A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.658A>G MANE Select ENSP00000321386.4:p.Met220Val
ENST00000321535.4:c.658A>G ENSP00000321386.4:p.Met220Val
NM_153230.2:c.658A>G NP_694962.1:p.Met220Val
XM_011523697.1:c.658A>G XP_011521999.1:p.Met220Val
XR_243544.3:n.836A>G
NM_153230.3:c.658A>G MANE Select NP_694962.1:p.Met220Val