Canonical Allele Identifier: CA397761512
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1446841473
gnomAD v2: 17-6683798-T-C
gnomAD v3: 17-6780479-T-C
gnomAD v4: 17-6780479-T-C
MyVariant Identifiers: chr17:g.6683798T>C (hg19) chr17:g.6780479T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780479T>C , CM000679.2:g.6780479T>C GRCh38
NC_000017.10:g.6683798T>C , CM000679.1:g.6683798T>C GRCh37
NC_000017.9:g.6624522T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.611T>C MANE Select ENSP00000321386.4:p.Phe204Ser
ENST00000321535.4:c.611T>C ENSP00000321386.4:p.Phe204Ser
NM_153230.2:c.611T>C NP_694962.1:p.Phe204Ser
XM_011523697.1:c.611T>C XP_011521999.1:p.Phe204Ser
XR_243544.3:n.789T>C
NM_153230.3:c.611T>C MANE Select NP_694962.1:p.Phe204Ser
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