Canonical Allele Identifier: CA2613931243

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964563-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964563C>G , CM000673.2:g.61964563C>G	GRCh38
NC_000011.9:g.61732035C>G , CM000673.1:g.61732035C>G	GRCh37
NC_000011.8:g.61488611C>G	NCBI36
NG_008346.1:g.8098G>C
NG_009033.1:g.19680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*164G>C (FTH1) MANE Select	ENSP00000273550.7:n.*164G>C
ENST00000273550.11:c.*164G>C (FTH1)	ENSP00000273550.7:n.*164G>C
ENST00000449131.6:c.*1414C>G (BEST1)	ENSP00000399709.2:n.*1414C>G
ENST00000529191.5:c.114+2749G>C (FTH1)	ENSP00000431659.1:n.114+2749G>C
ENST00000529631.5:c.114+2749G>C (FTH1)	ENSP00000431575.1:n.114+2749G>C
ENST00000530019.5:c.261+806G>C (FTH1)	ENSP00000433470.1:n.261+806G>C
NM_002032.2:c.*164G>C (FTH1)	NP_002023.2:n.*164G>C
NM_002032.3:c.*164G>C (FTH1) MANE Select	NP_002023.2:n.*164G>C
NM_001139443.2:c.*1414C>G (BEST1)	NP_001132915.1:n.*1414C>G
NM_001363591.2:c.*1414C>G (BEST1)	NP_001350520.1:n.*1414C>G
NM_001363593.2:c.*1414C>G (BEST1)	NP_001350522.1:n.*1414C>G