Canonical Allele Identifier: CA1977539220

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964765C= , CM000673.2:g.61964765C=	GRCh38
NC_000011.9:g.61732237C= , CM000673.1:g.61732237C=	GRCh37
NC_000011.8:g.61488813C=	NCBI36
NG_008346.1:g.7896G=
NG_009033.1:g.19882C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.514G= (FTH1)	ENSP00000484477.1:p.Asp172=
ENST00000273550.12:c.514G= (FTH1) MANE Select	ENSP00000273550.7:p.Asp172=
ENST00000273550.11:c.514G= (FTH1)	ENSP00000273550.7:p.Asp172=
ENST00000449131.6:c.*1616C= (BEST1)	ENSP00000399709.2:n.*1616C=
ENST00000526640.5:c.424G= (FTH1)	ENSP00000433321.1:p.Asp142=
ENST00000529191.5:c.114+2547G= (FTH1)	ENSP00000431659.1:n.114+2547G=
ENST00000529631.5:c.114+2547G= (FTH1)	ENSP00000431575.1:n.114+2547G=
ENST00000530019.5:c.261+604G= (FTH1)	ENSP00000433470.1:n.261+604G=
ENST00000532601.1:c.304G= (FTH1)	ENSP00000435111.1:p.Asp102=
ENST00000532829.5:c.*219G= (FTH1)	ENSP00000432223.1:n.*219G=
ENST00000534180.1:c.*423G= (FTH1)	ENSP00000434403.1:n.*423G=
ENST00000534719.1:n.770G= (FTH1)
ENST00000620041.4:c.514G= (FTH1)	ENSP00000484477.1:p.Asp172=
NM_002032.2:c.514G= (FTH1)	NP_002023.2:p.Asp172=
NM_002032.3:c.514G= (FTH1) MANE Select	NP_002023.2:p.Asp172=
NM_001139443.2:c.*1616C= (BEST1)	NP_001132915.1:n.*1616C=
NM_001363591.2:c.*1616C= (BEST1)	NP_001350520.1:n.*1616C=
NM_001363593.2:c.*1616C= (BEST1)	NP_001350522.1:n.*1616C=