Canonical Allele Identifier: CA514467975
Community Standard Title: NM_012179.4(FBXO7):c.630A>G (p.Ser210=)
Gene: FBXO7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32484109A>G , CM000684.2:g.32484109A>G GRCh38
NC_000022.10:g.32880096A>G , CM000684.1:g.32880096A>G GRCh37
NC_000022.9:g.31210096A>G NCBI36
NG_016001.1:g.14390A>G
NG_016001.2:g.14390A>G

Transcript Alleles

HGVS Amino-acid Change
NM_012179.4:c.630A>G MANE Select NP_036311.3:p.Ser210=
ENST00000266087.12:c.630A>G MANE Select ENSP00000266087.7:p.Ser210=
NM_001033024.1:c.393A>G NP_001028196.1:p.Ser131=
NM_001033024.2:c.393A>G NP_001028196.1:p.Ser131=
NM_001257990.1:c.288A>G NP_001244919.1:p.Ser96=
NM_001257990.2:c.288A>G NP_001244919.1:p.Ser96=
NM_012179.3:c.630A>G NP_036311.3:p.Ser210=
ENST00000266087.11:c.630A>G ENSP00000266087.7:p.Ser210=
ENST00000397426.5:c.288A>G ENSP00000380571.1:p.Ser96=
ENST00000420700.5:c.*209A>G ENSP00000406155.1:n.*209A>G
ENST00000425028.5:c.*328A>G ENSP00000395823.1:n.*328A>G
ENST00000452138.3:c.393A>G ENSP00000388547.2:p.Ser131=
ENST00000492535.1:n.466A>G
XM_011530106.1:c.162A>G XP_011528408.1:p.Ser54=
XM_024452207.1:c.288A>G XP_024307975.1:p.Ser96=