Canonical Allele Identifier: CA938623708

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1942389019
• gnomAD v3: 11-61964475-T-C
• gnomAD v4: 11-61964475-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964475T>C , CM000673.2:g.61964475T>C	GRCh38
NC_000011.9:g.61731947T>C , CM000673.1:g.61731947T>C	GRCh37
NC_000011.8:g.61488523T>C	NCBI36
NG_008346.1:g.8186A>G
NG_009033.1:g.19592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*252A>G (FTH1) MANE Select	ENSP00000273550.7:n.*252A>G
ENST00000273550.11:c.*252A>G (FTH1)	ENSP00000273550.7:n.*252A>G
ENST00000449131.6:c.*1326T>C (BEST1)	ENSP00000399709.2:n.*1326T>C
ENST00000529191.5:c.114+2837A>G (FTH1)	ENSP00000431659.1:n.114+2837A>G
ENST00000529631.5:c.114+2837A>G (FTH1)	ENSP00000431575.1:n.114+2837A>G
ENST00000530019.5:c.261+894A>G (FTH1)	ENSP00000433470.1:n.261+894A>G
NM_002032.2:c.*252A>G (FTH1)	NP_002023.2:n.*252A>G
NM_002032.3:c.*252A>G (FTH1) MANE Select	NP_002023.2:n.*252A>G
NM_001139443.2:c.*1326T>C (BEST1)	NP_001132915.1:n.*1326T>C
NM_001363591.2:c.*1326T>C (BEST1)	NP_001350520.1:n.*1326T>C
NM_001363593.2:c.*1326T>C (BEST1)	NP_001350522.1:n.*1326T>C