Canonical Allele Identifier: CA397762690
Gene: FBXO39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2236718
ClinVar RCV Id: RCV004092950
dbSNP Id: rs1311807573
gnomAD v4: 17-6780812-G-A
MyVariant Identifiers: chr17:g.6684131G>A (hg19) chr17:g.6780812G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780812G>A , CM000679.2:g.6780812G>A GRCh38
NC_000017.10:g.6684131G>A , CM000679.1:g.6684131G>A GRCh37
NC_000017.9:g.6624855G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.944G>A MANE Select ENSP00000321386.4:p.Ser315Asn
ENST00000321535.4:c.944G>A ENSP00000321386.4:p.Ser315Asn
NM_153230.2:c.944G>A NP_694962.1:p.Ser315Asn
XM_011523697.1:c.944G>A XP_011521999.1:p.Ser315Asn
XR_243544.3:n.1122G>A
NM_153230.3:c.944G>A MANE Select NP_694962.1:p.Ser315Asn
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