Canonical Allele Identifier: CA380853382

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1373976472
• gnomAD v2: 11-61732201-A-G
• gnomAD v3: 11-61964729-A-G
• gnomAD v4: 11-61964729-A-G
• MyVariant Identifiers: chr11:g.61732201A>G (hg19) ; chr11:g.61964729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964729A>G , CM000673.2:g.61964729A>G	GRCh38
NC_000011.9:g.61732201A>G , CM000673.1:g.61732201A>G	GRCh37
NC_000011.8:g.61488777A>G	NCBI36
NG_008346.1:g.7932T>C
NG_009033.1:g.19846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.550T>C (FTH1)	ENSP00000484477.1:p.Ter184Gln
ENST00000273550.12:c.550T>C (FTH1) MANE Select	ENSP00000273550.7:p.Ter184Gln
ENST00000273550.11:c.550T>C (FTH1)	ENSP00000273550.7:p.Ter184Gln
ENST00000449131.6:c.*1580A>G (BEST1)	ENSP00000399709.2:n.*1580A>G
ENST00000526640.5:c.460T>C (FTH1)	ENSP00000433321.1:p.Ter154Gln
ENST00000529191.5:c.114+2583T>C (FTH1)	ENSP00000431659.1:n.114+2583T>C
ENST00000529631.5:c.114+2583T>C (FTH1)	ENSP00000431575.1:n.114+2583T>C
ENST00000530019.5:c.261+640T>C (FTH1)	ENSP00000433470.1:n.261+640T>C
ENST00000532601.1:c.340T>C (FTH1)	ENSP00000435111.1:p.Ter114Gln
ENST00000532829.5:c.*255T>C (FTH1)	ENSP00000432223.1:n.*255T>C
ENST00000534180.1:c.*459T>C (FTH1)	ENSP00000434403.1:n.*459T>C
ENST00000620041.4:c.550T>C (FTH1)	ENSP00000484477.1:p.Ter184Gln
NM_002032.2:c.550T>C (FTH1)	NP_002023.2:p.Ter184Gln
NM_002032.3:c.550T>C (FTH1) MANE Select	NP_002023.2:p.Ter184Gln
NM_001139443.2:c.*1580A>G (BEST1)	NP_001132915.1:n.*1580A>G
NM_001363591.2:c.*1580A>G (BEST1)	NP_001350520.1:n.*1580A>G
NM_001363593.2:c.*1580A>G (BEST1)	NP_001350522.1:n.*1580A>G