Canonical Allele Identifier: CA1977539586

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61965016T= , CM000673.2:g.61965016T= GRCh38
NC_000011.9:g.61732488T= , CM000673.1:g.61732488T= GRCh37
NC_000011.8:g.61489064T= NCBI36
NG_008346.1:g.7645A=
NG_009033.1:g.20133T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.358A= (FTH1) ENSP00000484477.1:p.Lys120=
ENST00000273550.12:c.358A= (FTH1) MANE Select ENSP00000273550.7:p.Lys120=
ENST00000273550.11:c.358A= (FTH1) ENSP00000273550.7:p.Lys120=
ENST00000449131.6:c.*1867T= (BEST1) ENSP00000399709.2:n.*1867T=
ENST00000526640.5:c.268A= (FTH1) ENSP00000433321.1:p.Lys90=
ENST00000529191.5:c.114+2296A= (FTH1) ENSP00000431659.1:n.114+2296A=
ENST00000529548.1:c.148A= (FTH1) ENSP00000436947.1:p.Lys50=
ENST00000529631.5:c.114+2296A= (FTH1) ENSP00000431575.1:n.114+2296A=
ENST00000530019.5:c.261+353A= (FTH1) ENSP00000433470.1:n.261+353A=
ENST00000532601.1:c.148A= (FTH1) ENSP00000435111.1:p.Lys50=
ENST00000532829.5:c.*63A= (FTH1) ENSP00000432223.1:n.*63A=
ENST00000533138.1:n.802A= (FTH1)
ENST00000534180.1:c.*267A= (FTH1) ENSP00000434403.1:n.*267A=
ENST00000534719.1:n.519A= (FTH1)
ENST00000620041.4:c.358A= (FTH1) ENSP00000484477.1:p.Lys120=
NM_002032.2:c.358A= (FTH1) NP_002023.2:p.Lys120=
NM_002032.3:c.358A= (FTH1) MANE Select NP_002023.2:p.Lys120=
NM_001139443.2:c.*1867T= (BEST1) NP_001132915.1:n.*1867T=
NM_001363591.2:c.*1867T= (BEST1) NP_001350520.1:n.*1867T=
NM_001363593.2:c.*1867T= (BEST1) NP_001350522.1:n.*1867T=