Canonical Allele Identifier: CA1977539020

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964568G= , CM000673.2:g.61964568G= GRCh38
NC_000011.9:g.61732040G= , CM000673.1:g.61732040G= GRCh37
NC_000011.8:g.61488616G= NCBI36
NG_008346.1:g.8093C=
NG_009033.1:g.19685G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.*159C= (FTH1) ENSP00000484477.1:n.*159C=
ENST00000273550.12:c.*159C= (FTH1) MANE Select ENSP00000273550.7:n.*159C=
ENST00000273550.11:c.*159C= (FTH1) ENSP00000273550.7:n.*159C=
ENST00000449131.6:c.*1419G= (BEST1) ENSP00000399709.2:n.*1419G=
ENST00000529191.5:c.114+2744C= (FTH1) ENSP00000431659.1:n.114+2744C=
ENST00000529631.5:c.114+2744C= (FTH1) ENSP00000431575.1:n.114+2744C=
ENST00000530019.5:c.261+801C= (FTH1) ENSP00000433470.1:n.261+801C=
ENST00000532829.5:c.*416C= (FTH1) ENSP00000432223.1:n.*416C=
ENST00000534180.1:c.*620C= (FTH1) ENSP00000434403.1:n.*620C=
ENST00000620041.4:c.*159C= (FTH1) ENSP00000484477.1:n.*159C=
NM_002032.2:c.*159C= (FTH1) NP_002023.2:n.*159C=
NM_002032.3:c.*159C= (FTH1) MANE Select NP_002023.2:n.*159C=
NM_001139443.2:c.*1419G= (BEST1) NP_001132915.1:n.*1419G=
NM_001363591.2:c.*1419G= (BEST1) NP_001350520.1:n.*1419G=
NM_001363593.2:c.*1419G= (BEST1) NP_001350522.1:n.*1419G=