Canonical Allele Identifier: CA10201400
Community Standard Title: NM_012179.4(FBXO7):c.354A>G (p.Glu118=)
Gene: FBXO7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32479212A>G , CM000684.2:g.32479212A>G GRCh38
NC_000022.10:g.32875199A>G , CM000684.1:g.32875199A>G GRCh37
NC_000022.9:g.31205199A>G NCBI36
NG_016001.1:g.9493A>G
NG_016001.2:g.9493A>G

Transcript Alleles

HGVS Amino-acid Change
NM_012179.4:c.354A>G MANE Select NP_036311.3:p.Glu118=
ENST00000266087.12:c.354A>G MANE Select ENSP00000266087.7:p.Glu118=
NM_001033024.1:c.117A>G NP_001028196.1:p.Glu39=
NM_001033024.2:c.117A>G NP_001028196.1:p.Glu39=
NM_001257990.1:c.12A>G NP_001244919.1:p.Glu4=
NM_001257990.2:c.12A>G NP_001244919.1:p.Glu4=
NM_012179.3:c.354A>G NP_036311.3:p.Glu118=
ENST00000266087.11:c.354A>G ENSP00000266087.7:p.Glu118=
ENST00000397426.5:c.12A>G ENSP00000380571.1:p.Glu4=
ENST00000420700.5:c.122+4088A>G ENSP00000406155.1:n.122+4088A>G
ENST00000425028.5:c.*52A>G ENSP00000395823.1:n.*52A>G
ENST00000444207.1:c.12A>G ENSP00000404388.1:p.Glu4=
ENST00000452138.3:c.117A>G ENSP00000388547.2:p.Glu39=
ENST00000465418.1:n.394A>G
ENST00000492535.1:n.190A>G
XM_011530106.1:c.-52+4088A>G XP_011528408.1:n.-52+4088A>G
XM_024452207.1:c.12A>G XP_024307975.1:p.Glu4=