Canonical Allele Identifier: CA380854287

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964888-A-C
• MyVariant Identifiers: chr11:g.61732360A>C (hg19) ; chr11:g.61964888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964888A>C , CM000673.2:g.61964888A>C	GRCh38
NC_000011.9:g.61732360A>C , CM000673.1:g.61732360A>C	GRCh37
NC_000011.8:g.61488936A>C	NCBI36
NG_008346.1:g.7773T>G
NG_009033.1:g.20005A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620041.5:c.391T>G (FTH1)	ENSP00000484477.1:p.Cys131Gly
ENST00000273550.12:c.391T>G (FTH1) MANE Select	ENSP00000273550.7:p.Cys131Gly
ENST00000273550.11:c.391T>G (FTH1)	ENSP00000273550.7:p.Cys131Gly
ENST00000449131.6:c.*1739A>C (BEST1)	ENSP00000399709.2:n.*1739A>C
ENST00000526640.5:c.301T>G (FTH1)	ENSP00000433321.1:p.Cys101Gly
ENST00000529191.5:c.114+2424T>G (FTH1)	ENSP00000431659.1:n.114+2424T>G
ENST00000529631.5:c.114+2424T>G (FTH1)	ENSP00000431575.1:n.114+2424T>G
ENST00000530019.5:c.261+481T>G (FTH1)	ENSP00000433470.1:n.261+481T>G
ENST00000532601.1:c.181T>G (FTH1)	ENSP00000435111.1:p.Cys61Gly
ENST00000532829.5:c.*96T>G (FTH1)	ENSP00000432223.1:n.*96T>G
ENST00000533138.1:n.835T>G (FTH1)
ENST00000534180.1:c.*300T>G (FTH1)	ENSP00000434403.1:n.*300T>G
ENST00000534719.1:n.647T>G (FTH1)
ENST00000620041.4:c.391T>G (FTH1)	ENSP00000484477.1:p.Cys131Gly
NM_002032.2:c.391T>G (FTH1)	NP_002023.2:p.Cys131Gly
NM_002032.3:c.391T>G (FTH1) MANE Select	NP_002023.2:p.Cys131Gly
NM_001139443.2:c.*1739A>C (BEST1)	NP_001132915.1:n.*1739A>C
NM_001363591.2:c.*1739A>C (BEST1)	NP_001350520.1:n.*1739A>C
NM_001363593.2:c.*1739A>C (BEST1)	NP_001350522.1:n.*1739A>C