Canonical Allele Identifier: CA380854292

Gene: FTH1 BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61732361C>A (hg19) ; chr11:g.61964889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964889C>A , CM000673.2:g.61964889C>A	GRCh38
NC_000011.9:g.61732361C>A , CM000673.1:g.61732361C>A	GRCh37
NC_000011.8:g.61488937C>A	NCBI36
NG_008346.1:g.7772G>T
NG_009033.1:g.20006C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000620041.5:c.390G>T (FTH1)	ENSP00000484477.1:p.Leu130Phe
ENST00000273550.12:c.390G>T (FTH1) MANE Select	ENSP00000273550.7:p.Leu130Phe
ENST00000273550.11:c.390G>T (FTH1)	ENSP00000273550.7:p.Leu130Phe
ENST00000449131.6:c.*1740C>A (BEST1)	ENSP00000399709.2:n.*1740C>A
ENST00000526640.5:c.300G>T (FTH1)	ENSP00000433321.1:p.Leu100Phe
ENST00000529191.5:c.114+2423G>T (FTH1)	ENSP00000431659.1:n.114+2423G>T
ENST00000529631.5:c.114+2423G>T (FTH1)	ENSP00000431575.1:n.114+2423G>T
ENST00000530019.5:c.261+480G>T (FTH1)	ENSP00000433470.1:n.261+480G>T
ENST00000532601.1:c.180G>T (FTH1)	ENSP00000435111.1:p.Leu60Phe
ENST00000532829.5:c.*95G>T (FTH1)	ENSP00000432223.1:n.*95G>T
ENST00000533138.1:n.834G>T (FTH1)
ENST00000534180.1:c.*299G>T (FTH1)	ENSP00000434403.1:n.*299G>T
ENST00000534719.1:n.646G>T (FTH1)
ENST00000620041.4:c.390G>T (FTH1)	ENSP00000484477.1:p.Leu130Phe
NM_002032.2:c.390G>T (FTH1)	NP_002023.2:p.Leu130Phe
NM_002032.3:c.390G>T (FTH1) MANE Select	NP_002023.2:p.Leu130Phe
NM_001139443.2:c.*1740C>A (BEST1)	NP_001132915.1:n.*1740C>A
NM_001363591.2:c.*1740C>A (BEST1)	NP_001350520.1:n.*1740C>A
NM_001363593.2:c.*1740C>A (BEST1)	NP_001350522.1:n.*1740C>A