Canonical Allele Identifier: CA8332520
Gene: FBXO39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2299488
ClinVar RCV Id: RCV004153820
dbSNP Id: rs757022078
ExAC: 17:6684118 A / G
gnomAD v2: 17-6684118-A-G
gnomAD v3: 17-6780799-A-G
gnomAD v4: 17-6780799-A-G
MyVariant Identifiers: chr17:g.6684118A>G (hg19) chr17:g.6780799A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780799A>G , CM000679.2:g.6780799A>G GRCh38
NC_000017.10:g.6684118A>G , CM000679.1:g.6684118A>G GRCh37
NC_000017.9:g.6624842A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.931A>G MANE Select ENSP00000321386.4:p.Ile311Val
ENST00000321535.4:c.931A>G ENSP00000321386.4:p.Ile311Val
NM_153230.2:c.931A>G NP_694962.1:p.Ile311Val
XM_011523697.1:c.931A>G XP_011521999.1:p.Ile311Val
XR_243544.3:n.1109A>G
NM_153230.3:c.931A>G MANE Select NP_694962.1:p.Ile311Val
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