Canonical Allele Identifier: CA474958810

Gene: FTH1 BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61732355G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964883G>A , CM000673.2:g.61964883G>A	GRCh38
NC_000011.9:g.61732355G>A , CM000673.1:g.61732355G>A	GRCh37
NC_000011.8:g.61488931G>A	NCBI36
NG_008346.1:g.7778C>T
NG_009033.1:g.20000G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000620041.5:c.396C>T (FTH1)	ENSP00000484477.1:p.Asp132=
ENST00000273550.12:c.396C>T (FTH1) MANE Select	ENSP00000273550.7:p.Asp132=
ENST00000273550.11:c.396C>T (FTH1)	ENSP00000273550.7:p.Asp132=
ENST00000449131.6:c.*1734G>A (BEST1)	ENSP00000399709.2:n.*1734G>A
ENST00000526640.5:c.306C>T (FTH1)	ENSP00000433321.1:p.Asp102=
ENST00000529191.5:c.114+2429C>T (FTH1)	ENSP00000431659.1:n.114+2429C>T
ENST00000529631.5:c.114+2429C>T (FTH1)	ENSP00000431575.1:n.114+2429C>T
ENST00000530019.5:c.261+486C>T (FTH1)	ENSP00000433470.1:n.261+486C>T
ENST00000532601.1:c.186C>T (FTH1)	ENSP00000435111.1:p.Asp62=
ENST00000532829.5:c.*101C>T (FTH1)	ENSP00000432223.1:n.*101C>T
ENST00000533138.1:n.840C>T (FTH1)
ENST00000534180.1:c.*305C>T (FTH1)	ENSP00000434403.1:n.*305C>T
ENST00000534719.1:n.652C>T (FTH1)
ENST00000620041.4:c.396C>T (FTH1)	ENSP00000484477.1:p.Asp132=
NM_002032.2:c.396C>T (FTH1)	NP_002023.2:p.Asp132=
NM_002032.3:c.396C>T (FTH1) MANE Select	NP_002023.2:p.Asp132=
NM_001139443.2:c.*1734G>A (BEST1)	NP_001132915.1:n.*1734G>A
NM_001363591.2:c.*1734G>A (BEST1)	NP_001350520.1:n.*1734G>A
NM_001363593.2:c.*1734G>A (BEST1)	NP_001350522.1:n.*1734G>A