Canonical Allele Identifier: CA379578035
Community Standard Title: NM_003754.3(EIF3F):c.916C>T (p.Arg306Cys)
Gene: EIF3F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.7995287C>T , CM000673.2:g.7995287C>T GRCh38
NC_000011.9:g.8016834C>T , CM000673.1:g.8016834C>T GRCh37
NC_000011.8:g.7973410C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003754.3:c.916C>T MANE Select NP_003745.1:p.Arg306Cys
ENST00000651655.1:c.916C>T MANE Select ENSP00000499218.1:p.Arg306Cys
NM_003754.2:c.916C>T NP_003745.1:p.Arg306Cys
ENST00000309828.4:c.916C>T ENSP00000310040.4:p.Arg306Cys
ENST00000528653.2:n.1385C>T
ENST00000528763.1:n.455C>T
ENST00000528763.2:n.1135C>T
ENST00000530219.1:n.1228C>T
ENST00000530219.2:n.716C>T
ENST00000531329.5:c.*470C>T ENSP00000432489.1:n.*470C>T
ENST00000531329.6:c.*360C>T ENSP00000432489.2:n.*360C>T
ENST00000531572.1:c.139C>T ENSP00000434286.1:p.Arg47Cys
ENST00000531572.2:c.916C>T ENSP00000434286.2:p.Arg306Cys
ENST00000532882.2:n.2285C>T
ENST00000533626.5:c.916C>T ENSP00000431800.1:p.Arg306Cys
ENST00000640290.2:c.*517C>T ENSP00000491198.2:n.*517C>T
ENST00000677121.1:c.*394C>T ENSP00000503130.1:n.*394C>T
ENST00000677179.1:n.5208C>T
ENST00000677795.1:n.3086C>T
ENST00000677866.1:n.1961C>T
ENST00000678132.1:c.*517C>T ENSP00000504073.1:n.*517C>T
ENST00000678993.1:c.*470C>T ENSP00000504201.1:n.*470C>T