Canonical Allele Identifier: CA8058642
Community Standard Title: NM_001080432.3(FTO):c.1477G>T (p.Val493Phe)
Gene: FTO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.54111874G>T , CM000678.2:g.54111874G>T GRCh38
NC_000016.9:g.54145786G>T , CM000678.1:g.54145786G>T GRCh37
NC_000016.8:g.52703287G>T NCBI36
NG_012969.1:g.412912G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001080432.3:c.1477G>T MANE Select NP_001073901.1:p.Val493Phe
ENST00000471389.6:c.1477G>T MANE Select ENSP00000418823.1:p.Val493Phe
NM_001080432.2:c.1477G>T NP_001073901.1:p.Val493Phe
NM_001363891.1:c.1507G>T NP_001350820.1:p.Val503Phe
NM_001363894.1:c.1540G>T NP_001350823.1:p.Val514Phe
NM_001363896.1:c.1459G>T NP_001350825.1:p.Val487Phe
NM_001363897.1:c.1399G>T NP_001350826.1:p.Val467Phe
NM_001363898.1:c.1363G>T NP_001350827.1:p.Val455Phe
NM_001363899.1:c.1363G>T NP_001350828.1:p.Val455Phe
NM_001363900.1:c.1333G>T NP_001350829.1:p.Val445Phe
NM_001363901.1:c.1333G>T NP_001350830.1:p.Val445Phe
NM_001363903.1:c.*77G>T NP_001350832.1:n.*77G>T
NM_001363905.1:c.964G>T NP_001350834.1:p.Val322Phe
NM_001363988.1:c.*135G>T NP_001350917.1:n.*135G>T
NR_156761.1:n.727G>T
ENST00000268349.7:c.210G>T ENSP00000268349.7:p.Ser70=
ENST00000431610.6:c.280G>T ENSP00000415636.2:p.Val94Phe
ENST00000460382.5:c.280G>T ENSP00000417422.1:p.Val94Phe
ENST00000463855.1:c.343G>T ENSP00000417843.1:p.Val115Phe
ENST00000464071.1:c.*636G>T ENSP00000418424.1:n.*636G>T
ENST00000471389.5:c.1477G>T ENSP00000418823.1:p.Val493Phe
ENST00000472835.1:n.419G>T
ENST00000612285.2:c.502G>T ENSP00000490300.1:p.Val168Phe
ENST00000635892.1:n.327G>T
ENST00000636091.1:n.2758G>T
ENST00000637845.1:c.1477G>T ENSP00000489638.1:p.Val493Phe
ENST00000637969.1:c.1477G>T ENSP00000490516.1:p.Val493Phe
XM_011523313.1:c.1507G>T XP_011521615.1:p.Val503Phe