Canonical Allele Identifier: CA1977539046

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964608G= , CM000673.2:g.61964608G= GRCh38
NC_000011.9:g.61732080G= , CM000673.1:g.61732080G= GRCh37
NC_000011.8:g.61488656G= NCBI36
NG_008346.1:g.8053C=
NG_009033.1:g.19725G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.*119C= (FTH1) ENSP00000484477.1:n.*119C=
ENST00000273550.12:c.*119C= (FTH1) MANE Select ENSP00000273550.7:n.*119C=
ENST00000273550.11:c.*119C= (FTH1) ENSP00000273550.7:n.*119C=
ENST00000449131.6:c.*1459G= (BEST1) ENSP00000399709.2:n.*1459G=
ENST00000526640.5:c.*119C= (FTH1) ENSP00000433321.1:n.*119C=
ENST00000529191.5:c.114+2704C= (FTH1) ENSP00000431659.1:n.114+2704C=
ENST00000529631.5:c.114+2704C= (FTH1) ENSP00000431575.1:n.114+2704C=
ENST00000530019.5:c.261+761C= (FTH1) ENSP00000433470.1:n.261+761C=
ENST00000532601.1:c.*119C= (FTH1) ENSP00000435111.1:n.*119C=
ENST00000532829.5:c.*376C= (FTH1) ENSP00000432223.1:n.*376C=
ENST00000534180.1:c.*580C= (FTH1) ENSP00000434403.1:n.*580C=
ENST00000620041.4:c.*119C= (FTH1) ENSP00000484477.1:n.*119C=
NM_002032.2:c.*119C= (FTH1) NP_002023.2:n.*119C=
NM_002032.3:c.*119C= (FTH1) MANE Select NP_002023.2:n.*119C=
NM_001139443.2:c.*1459G= (BEST1) NP_001132915.1:n.*1459G=
NM_001363591.2:c.*1459G= (BEST1) NP_001350520.1:n.*1459G=
NM_001363593.2:c.*1459G= (BEST1) NP_001350522.1:n.*1459G=