Canonical Allele Identifier: CA1977539029

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964579C= , CM000673.2:g.61964579C= GRCh38
NC_000011.9:g.61732051C= , CM000673.1:g.61732051C= GRCh37
NC_000011.8:g.61488627C= NCBI36
NG_008346.1:g.8082G=
NG_009033.1:g.19696C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.*148G= (FTH1) ENSP00000484477.1:n.*148G=
ENST00000273550.12:c.*148G= (FTH1) MANE Select ENSP00000273550.7:n.*148G=
ENST00000273550.11:c.*148G= (FTH1) ENSP00000273550.7:n.*148G=
ENST00000449131.6:c.*1430C= (BEST1) ENSP00000399709.2:n.*1430C=
ENST00000529191.5:c.114+2733G= (FTH1) ENSP00000431659.1:n.114+2733G=
ENST00000529631.5:c.114+2733G= (FTH1) ENSP00000431575.1:n.114+2733G=
ENST00000530019.5:c.261+790G= (FTH1) ENSP00000433470.1:n.261+790G=
ENST00000532829.5:c.*405G= (FTH1) ENSP00000432223.1:n.*405G=
ENST00000534180.1:c.*609G= (FTH1) ENSP00000434403.1:n.*609G=
ENST00000620041.4:c.*148G= (FTH1) ENSP00000484477.1:n.*148G=
NM_002032.2:c.*148G= (FTH1) NP_002023.2:n.*148G=
NM_002032.3:c.*148G= (FTH1) MANE Select NP_002023.2:n.*148G=
NM_001139443.2:c.*1430C= (BEST1) NP_001132915.1:n.*1430C=
NM_001363591.2:c.*1430C= (BEST1) NP_001350520.1:n.*1430C=
NM_001363593.2:c.*1430C= (BEST1) NP_001350522.1:n.*1430C=