Canonical Allele Identifier: CA411334785
Community Standard Title: NM_012179.4(FBXO7):c.1132C>A (p.Arg378Ser)
Gene: FBXO7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32493269C>A , CM000684.2:g.32493269C>A GRCh38
NC_000022.10:g.32889256C>A , CM000684.1:g.32889256C>A GRCh37
NC_000022.9:g.31219256C>A NCBI36
NG_016001.1:g.23550C>A
NG_016001.2:g.23550C>A

Transcript Alleles

HGVS Amino-acid Change
NM_012179.4:c.1132C>A MANE Select NP_036311.3:p.Arg378Ser
ENST00000266087.12:c.1132C>A MANE Select ENSP00000266087.7:p.Arg378Ser
NM_001033024.1:c.895C>A NP_001028196.1:p.Arg299Ser
NM_001033024.2:c.895C>A NP_001028196.1:p.Arg299Ser
NM_001257990.1:c.790C>A NP_001244919.1:p.Arg264Ser
NM_001257990.2:c.790C>A NP_001244919.1:p.Arg264Ser
NM_012179.3:c.1132C>A NP_036311.3:p.Arg378Ser
ENST00000266087.11:c.1132C>A ENSP00000266087.7:p.Arg378Ser
ENST00000397426.5:c.790C>A ENSP00000380571.1:p.Arg264Ser
ENST00000420700.5:c.*711C>A ENSP00000406155.1:n.*711C>A
ENST00000425028.5:c.*830C>A ENSP00000395823.1:n.*830C>A
ENST00000452138.3:c.895C>A ENSP00000388547.2:p.Arg299Ser
ENST00000492535.1:n.6148C>A
XM_011530106.1:c.664C>A XP_011528408.1:p.Arg222Ser
XM_024452207.1:c.790C>A XP_024307975.1:p.Arg264Ser