Canonical Allele Identifier: CA514300637
Community Standard Title: NM_012179.4(FBXO7):c.1062T>G (p.Ser354=)
Gene: FBXO7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32493199T>G , CM000684.2:g.32493199T>G GRCh38
NC_000022.10:g.32889186T>G , CM000684.1:g.32889186T>G GRCh37
NC_000022.9:g.31219186T>G NCBI36
NG_016001.1:g.23480T>G
NG_016001.2:g.23480T>G

Transcript Alleles

HGVS Amino-acid Change
NM_012179.4:c.1062T>G MANE Select NP_036311.3:p.Ser354=
ENST00000266087.12:c.1062T>G MANE Select ENSP00000266087.7:p.Ser354=
NM_001033024.1:c.825T>G NP_001028196.1:p.Ser275=
NM_001033024.2:c.825T>G NP_001028196.1:p.Ser275=
NM_001257990.1:c.720T>G NP_001244919.1:p.Ser240=
NM_001257990.2:c.720T>G NP_001244919.1:p.Ser240=
NM_012179.3:c.1062T>G NP_036311.3:p.Ser354=
ENST00000266087.11:c.1062T>G ENSP00000266087.7:p.Ser354=
ENST00000397426.5:c.720T>G ENSP00000380571.1:p.Ser240=
ENST00000420700.5:c.*641T>G ENSP00000406155.1:n.*641T>G
ENST00000425028.5:c.*760T>G ENSP00000395823.1:n.*760T>G
ENST00000452138.3:c.825T>G ENSP00000388547.2:p.Ser275=
ENST00000492535.1:n.6078T>G
XM_011530106.1:c.594T>G XP_011528408.1:p.Ser198=
XM_024452207.1:c.720T>G XP_024307975.1:p.Ser240=