Canonical Allele Identifier: CA8332457

Gene: FBXO39

Linked Data

• dbSNP Id: rs754032139
• ExAC: 17:6683845 A / G
• gnomAD v2: 17-6683845-A-G
• gnomAD v3: 17-6780526-A-G
• gnomAD v4: 17-6780526-A-G
• MyVariant Identifiers: chr17:g.6683845A>G (hg19) ; chr17:g.6780526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6780526A>G , CM000679.2:g.6780526A>G	GRCh38
NC_000017.10:g.6683845A>G , CM000679.1:g.6683845A>G	GRCh37
NC_000017.9:g.6624569A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321535.5:c.658A>G MANE Select	ENSP00000321386.4:p.Met220Val
ENST00000321535.4:c.658A>G	ENSP00000321386.4:p.Met220Val
NM_153230.2:c.658A>G	NP_694962.1:p.Met220Val
XM_011523697.1:c.658A>G	XP_011521999.1:p.Met220Val
XR_243544.3:n.836A>G
NM_153230.3:c.658A>G MANE Select	NP_694962.1:p.Met220Val