Canonical Allele Identifier: CA1977538990

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964537T= , CM000673.2:g.61964537T=	GRCh38
NC_000011.9:g.61732009T= , CM000673.1:g.61732009T=	GRCh37
NC_000011.8:g.61488585T=	NCBI36
NG_008346.1:g.8124A=
NG_009033.1:g.19654T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*190A= (FTH1) MANE Select	ENSP00000273550.7:n.*190A=
ENST00000273550.11:c.*190A= (FTH1)	ENSP00000273550.7:n.*190A=
ENST00000449131.6:c.*1388T= (BEST1)	ENSP00000399709.2:n.*1388T=
ENST00000529191.5:c.114+2775A= (FTH1)	ENSP00000431659.1:n.114+2775A=
ENST00000529631.5:c.114+2775A= (FTH1)	ENSP00000431575.1:n.114+2775A=
ENST00000530019.5:c.261+832A= (FTH1)	ENSP00000433470.1:n.261+832A=
NM_002032.2:c.*190A= (FTH1)	NP_002023.2:n.*190A=
NM_002032.3:c.*190A= (FTH1) MANE Select	NP_002023.2:n.*190A=
NM_001139443.2:c.*1388T= (BEST1)	NP_001132915.1:n.*1388T=
NM_001363591.2:c.*1388T= (BEST1)	NP_001350520.1:n.*1388T=
NM_001363593.2:c.*1388T= (BEST1)	NP_001350522.1:n.*1388T=