Canonical Allele Identifier: CA8332516
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs751609367
ExAC: 17:6684103 A / T
gnomAD v2: 17-6684103-A-T
gnomAD v4: 17-6780784-A-T
MyVariant Identifiers: chr17:g.6684103A>T (hg19) chr17:g.6780784A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780784A>T , CM000679.2:g.6780784A>T GRCh38
NC_000017.10:g.6684103A>T , CM000679.1:g.6684103A>T GRCh37
NC_000017.9:g.6624827A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.916A>T MANE Select ENSP00000321386.4:p.Ile306Phe
ENST00000321535.4:c.916A>T ENSP00000321386.4:p.Ile306Phe
NM_153230.2:c.916A>T NP_694962.1:p.Ile306Phe
XM_011523697.1:c.916A>T XP_011521999.1:p.Ile306Phe
XR_243544.3:n.1094A>T
NM_153230.3:c.916A>T MANE Select NP_694962.1:p.Ile306Phe
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