Canonical Allele Identifier: CA514298157
Community Standard Title: NM_012179.4(FBXO7):c.801C>A (p.Ile267=)
Gene: FBXO7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32487758C>A , CM000684.2:g.32487758C>A GRCh38
NC_000022.10:g.32883745C>A , CM000684.1:g.32883745C>A GRCh37
NC_000022.9:g.31213745C>A NCBI36
NG_016001.1:g.18039C>A
NG_016001.2:g.18039C>A

Transcript Alleles

HGVS Amino-acid Change
NM_012179.4:c.801C>A MANE Select NP_036311.3:p.Ile267=
ENST00000266087.12:c.801C>A MANE Select ENSP00000266087.7:p.Ile267=
NM_001033024.1:c.564C>A NP_001028196.1:p.Ile188=
NM_001033024.2:c.564C>A NP_001028196.1:p.Ile188=
NM_001257990.1:c.459C>A NP_001244919.1:p.Ile153=
NM_001257990.2:c.459C>A NP_001244919.1:p.Ile153=
NM_012179.3:c.801C>A NP_036311.3:p.Ile267=
ENST00000266087.11:c.801C>A ENSP00000266087.7:p.Ile267=
ENST00000397426.5:c.459C>A ENSP00000380571.1:p.Ile153=
ENST00000420700.5:c.*380C>A ENSP00000406155.1:n.*380C>A
ENST00000425028.5:c.*499C>A ENSP00000395823.1:n.*499C>A
ENST00000452138.3:c.564C>A ENSP00000388547.2:p.Ile188=
ENST00000484607.1:n.471C>A
ENST00000492535.1:n.637C>A
XM_011530106.1:c.333C>A XP_011528408.1:p.Ile111=
XM_024452207.1:c.459C>A XP_024307975.1:p.Ile153=