Canonical Allele Identifier: CA6041206

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs760927574
• ExAC: 11:61732239 A / G
• gnomAD v2: 11-61732239-A-G
• gnomAD v4: 11-61964767-A-G
• MyVariant Identifiers: chr11:g.61732239A>G (hg19) ; chr11:g.61964767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964767A>G , CM000673.2:g.61964767A>G	GRCh38
NC_000011.9:g.61732239A>G , CM000673.1:g.61732239A>G	GRCh37
NC_000011.8:g.61488815A>G	NCBI36
NG_008346.1:g.7894T>C
NG_009033.1:g.19884A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.512T>C (FTH1)	ENSP00000484477.1:p.Phe171Ser
ENST00000273550.12:c.512T>C (FTH1) MANE Select	ENSP00000273550.7:p.Phe171Ser
ENST00000273550.11:c.512T>C (FTH1)	ENSP00000273550.7:p.Phe171Ser
ENST00000449131.6:c.*1618A>G (BEST1)	ENSP00000399709.2:n.*1618A>G
ENST00000526640.5:c.422T>C (FTH1)	ENSP00000433321.1:p.Phe141Ser
ENST00000529191.5:c.114+2545T>C (FTH1)	ENSP00000431659.1:n.114+2545T>C
ENST00000529631.5:c.114+2545T>C (FTH1)	ENSP00000431575.1:n.114+2545T>C
ENST00000530019.5:c.261+602T>C (FTH1)	ENSP00000433470.1:n.261+602T>C
ENST00000532601.1:c.302T>C (FTH1)	ENSP00000435111.1:p.Phe101Ser
ENST00000532829.5:c.*217T>C (FTH1)	ENSP00000432223.1:n.*217T>C
ENST00000534180.1:c.*421T>C (FTH1)	ENSP00000434403.1:n.*421T>C
ENST00000534719.1:n.768T>C (FTH1)
ENST00000620041.4:c.512T>C (FTH1)	ENSP00000484477.1:p.Phe171Ser
NM_002032.2:c.512T>C (FTH1)	NP_002023.2:p.Phe171Ser
NM_002032.3:c.512T>C (FTH1) MANE Select	NP_002023.2:p.Phe171Ser
NM_001139443.2:c.*1618A>G (BEST1)	NP_001132915.1:n.*1618A>G
NM_001363591.2:c.*1618A>G (BEST1)	NP_001350520.1:n.*1618A>G
NM_001363593.2:c.*1618A>G (BEST1)	NP_001350522.1:n.*1618A>G