Canonical Allele Identifier: CA1977538996

Gene: FTH1 BEST1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964539C= , CM000673.2:g.61964539C=	GRCh38
NC_000011.9:g.61732011C= , CM000673.1:g.61732011C=	GRCh37
NC_000011.8:g.61488587C=	NCBI36
NG_008346.1:g.8122G=
NG_009033.1:g.19656C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*188G= (FTH1) MANE Select	ENSP00000273550.7:n.*188G=
ENST00000273550.11:c.*188G= (FTH1)	ENSP00000273550.7:n.*188G=
ENST00000449131.6:c.*1390C= (BEST1)	ENSP00000399709.2:n.*1390C=
ENST00000529191.5:c.114+2773G= (FTH1)	ENSP00000431659.1:n.114+2773G=
ENST00000529631.5:c.114+2773G= (FTH1)	ENSP00000431575.1:n.114+2773G=
ENST00000530019.5:c.261+830G= (FTH1)	ENSP00000433470.1:n.261+830G=
NM_002032.2:c.*188G= (FTH1)	NP_002023.2:n.*188G=
NM_002032.3:c.*188G= (FTH1) MANE Select	NP_002023.2:n.*188G=
NM_001139443.2:c.*1390C= (BEST1)	NP_001132915.1:n.*1390C=
NM_001363591.2:c.*1390C= (BEST1)	NP_001350520.1:n.*1390C=
NM_001363593.2:c.*1390C= (BEST1)	NP_001350522.1:n.*1390C=