Canonical Allele Identifier: CA397762738
Gene: FBXO39 HGNC NCBI

Linked Data

gnomAD v4: 17-6780820-T-C
MyVariant Identifiers: chr17:g.6684139T>C (hg19) chr17:g.6780820T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780820T>C , CM000679.2:g.6780820T>C GRCh38
NC_000017.10:g.6684139T>C , CM000679.1:g.6684139T>C GRCh37
NC_000017.9:g.6624863T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.952T>C MANE Select ENSP00000321386.4:p.Phe318Leu
ENST00000321535.4:c.952T>C ENSP00000321386.4:p.Phe318Leu
NM_153230.2:c.952T>C NP_694962.1:p.Phe318Leu
XM_011523697.1:c.952T>C XP_011521999.1:p.Phe318Leu
XR_243544.3:n.1130T>C
NM_153230.3:c.952T>C MANE Select NP_694962.1:p.Phe318Leu
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