Canonical Allele Identifier: CA8332533
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs201119465
gnomAD v2: 17-6684196-C-T
gnomAD v3: 17-6780877-C-T
gnomAD v4: 17-6780877-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780877C>T , CM000679.2:g.6780877C>T GRCh38
NC_000017.10:g.6684196C>T , CM000679.1:g.6684196C>T GRCh37
NC_000017.9:g.6624920C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.1009C>T MANE Select ENSP00000321386.4:p.Arg337Trp
ENST00000321535.4:c.1009C>T ENSP00000321386.4:p.Arg337Trp
NM_153230.2:c.1009C>T NP_694962.1:p.Arg337Trp
XM_011523697.1:c.1009C>T XP_011521999.1:p.Arg337Trp
XR_243544.3:n.1187C>T
NM_153230.3:c.1009C>T MANE Select NP_694962.1:p.Arg337Trp