Canonical Allele Identifier: CA8332460

Gene: FBXO39

Linked Data

• dbSNP Id: rs372175030
• ExAC: 17:6683855 T / G
• gnomAD v2: 17-6683855-T-G
• gnomAD v3: 17-6780536-T-G
• gnomAD v4: 17-6780536-T-G
• MyVariant Identifiers: chr17:g.6683855T>G (hg19) ; chr17:g.6780536T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6780536T>G , CM000679.2:g.6780536T>G	GRCh38
NC_000017.10:g.6683855T>G , CM000679.1:g.6683855T>G	GRCh37
NC_000017.9:g.6624579T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321535.5:c.668T>G MANE Select	ENSP00000321386.4:p.Phe223Cys
ENST00000321535.4:c.668T>G	ENSP00000321386.4:p.Phe223Cys
NM_153230.2:c.668T>G	NP_694962.1:p.Phe223Cys
XM_011523697.1:c.668T>G	XP_011521999.1:p.Phe223Cys
XR_243544.3:n.846T>G
NM_153230.3:c.668T>G MANE Select	NP_694962.1:p.Phe223Cys