Canonical Allele Identifier: CA514300549
Community Standard Title: NM_012179.4(FBXO7):c.1041G>A (p.Leu347=)
Gene: FBXO7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32493178G>A , CM000684.2:g.32493178G>A GRCh38
NC_000022.10:g.32889165G>A , CM000684.1:g.32889165G>A GRCh37
NC_000022.9:g.31219165G>A NCBI36
NG_016001.1:g.23459G>A
NG_016001.2:g.23459G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012179.4:c.1041G>A MANE Select NP_036311.3:p.Leu347=
ENST00000266087.12:c.1041G>A MANE Select ENSP00000266087.7:p.Leu347=
NM_001033024.1:c.804G>A NP_001028196.1:p.Leu268=
NM_001033024.2:c.804G>A NP_001028196.1:p.Leu268=
NM_001257990.1:c.699G>A NP_001244919.1:p.Leu233=
NM_001257990.2:c.699G>A NP_001244919.1:p.Leu233=
NM_012179.3:c.1041G>A NP_036311.3:p.Leu347=
ENST00000266087.11:c.1041G>A ENSP00000266087.7:p.Leu347=
ENST00000397426.5:c.699G>A ENSP00000380571.1:p.Leu233=
ENST00000420700.5:c.*620G>A ENSP00000406155.1:n.*620G>A
ENST00000425028.5:c.*739G>A ENSP00000395823.1:n.*739G>A
ENST00000452138.3:c.804G>A ENSP00000388547.2:p.Leu268=
ENST00000492535.1:n.6057G>A
XM_011530106.1:c.573G>A XP_011528408.1:p.Leu191=
XM_024452207.1:c.699G>A XP_024307975.1:p.Leu233=