Canonical Allele Identifier: CA8332494
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs144312029
ExAC: 17:6684022 C / G
gnomAD v2: 17-6684022-C-G
gnomAD v3: 17-6780703-C-G
gnomAD v4: 17-6780703-C-G
MyVariant Identifiers: chr17:g.6684022C>G (hg19) chr17:g.6780703C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780703C>G , CM000679.2:g.6780703C>G GRCh38
NC_000017.10:g.6684022C>G , CM000679.1:g.6684022C>G GRCh37
NC_000017.9:g.6624746C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.835C>G MANE Select ENSP00000321386.4:p.Gln279Glu
ENST00000321535.4:c.835C>G ENSP00000321386.4:p.Gln279Glu
NM_153230.2:c.835C>G NP_694962.1:p.Gln279Glu
XM_011523697.1:c.835C>G XP_011521999.1:p.Gln279Glu
XR_243544.3:n.1013C>G
NM_153230.3:c.835C>G MANE Select NP_694962.1:p.Gln279Glu
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