Canonical Allele Identifier: CA8332536
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs764065256
ExAC: 17:6684205 C / G
gnomAD v2: 17-6684205-C-G
gnomAD v4: 17-6780886-C-G
MyVariant Identifiers: chr17:g.6684205C>G (hg19) chr17:g.6780886C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780886C>G , CM000679.2:g.6780886C>G GRCh38
NC_000017.10:g.6684205C>G , CM000679.1:g.6684205C>G GRCh37
NC_000017.9:g.6624929C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.1018C>G MANE Select ENSP00000321386.4:p.Leu340Val
ENST00000321535.4:c.1018C>G ENSP00000321386.4:p.Leu340Val
NM_153230.2:c.1018C>G NP_694962.1:p.Leu340Val
XM_011523697.1:c.1018C>G XP_011521999.1:p.Leu340Val
XR_243544.3:n.1196C>G
NM_153230.3:c.1018C>G MANE Select NP_694962.1:p.Leu340Val
Search 100 bp 5'
Search 100 bp 3'