Canonical Allele Identifier: CA514468320
Community Standard Title: NM_012179.4(FBXO7):c.1494A>G (p.Arg498=)
Gene: FBXO7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32498455A>G , CM000684.2:g.32498455A>G GRCh38
NC_000022.10:g.32894442A>G , CM000684.1:g.32894442A>G GRCh37
NC_000022.9:g.31224442A>G NCBI36
NG_016001.1:g.28736A>G
NG_016001.2:g.28736A>G

Transcript Alleles

HGVS Amino-acid Change
NM_012179.4:c.1494A>G MANE Select NP_036311.3:p.Arg498=
ENST00000266087.12:c.1494A>G MANE Select ENSP00000266087.7:p.Arg498=
NM_001033024.1:c.1257A>G NP_001028196.1:p.Arg419=
NM_001033024.2:c.1257A>G NP_001028196.1:p.Arg419=
NM_001257990.1:c.1152A>G NP_001244919.1:p.Arg384=
NM_001257990.2:c.1152A>G NP_001244919.1:p.Arg384=
NM_012179.3:c.1494A>G NP_036311.3:p.Arg498=
ENST00000266087.11:c.1494A>G ENSP00000266087.7:p.Arg498=
ENST00000397426.5:c.1152A>G ENSP00000380571.1:p.Arg384=
ENST00000420700.5:c.*1073A>G ENSP00000406155.1:n.*1073A>G
ENST00000425028.5:c.*1192A>G ENSP00000395823.1:n.*1192A>G
ENST00000452138.3:c.1257A>G ENSP00000388547.2:p.Arg419=
ENST00000492535.1:n.6510A>G
XM_011530106.1:c.1026A>G XP_011528408.1:p.Arg342=
XM_024452207.1:c.1152A>G XP_024307975.1:p.Arg384=