Canonical Allele Identifier: CA938623700

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1942386627
• gnomAD v3: 11-61964442-A-C
• gnomAD v4: 11-61964442-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964442A>C , CM000673.2:g.61964442A>C	GRCh38
NC_000011.9:g.61731914A>C , CM000673.1:g.61731914A>C	GRCh37
NC_000011.8:g.61488490A>C	NCBI36
NG_008346.1:g.8219T>G
NG_009033.1:g.19559A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*285T>G (FTH1) MANE Select	ENSP00000273550.7:n.*285T>G
ENST00000378043.9:c.*320A>C (BEST1) MANE Select	ENSP00000367282.4:n.*320A>C
ENST00000273550.11:c.*285T>G (FTH1)	ENSP00000273550.7:n.*285T>G
ENST00000378043.8:c.*320A>C (BEST1)	ENSP00000367282.4:n.*320A>C
ENST00000449131.6:c.*1293A>C (BEST1)	ENSP00000399709.2:n.*1293A>C
ENST00000524926.5:c.*973A>C (BEST1)	ENSP00000432681.1:n.*973A>C
ENST00000529191.5:c.114+2870T>G (FTH1)	ENSP00000431659.1:n.114+2870T>G
ENST00000529631.5:c.114+2870T>G (FTH1)	ENSP00000431575.1:n.114+2870T>G
ENST00000530019.5:c.261+927T>G (FTH1)	ENSP00000433470.1:n.261+927T>G
NM_001300786.1:c.*320A>C (BEST1)	NP_001287715.1:n.*320A>C
NM_001300787.1:c.*320A>C (BEST1)	NP_001287716.1:n.*320A>C
NM_002032.2:c.*285T>G (FTH1)	NP_002023.2:n.*285T>G
NM_004183.3:c.*320A>C (BEST1)	NP_004174.1:n.*320A>C
XM_005274210.2:c.*1293A>C (BEST1)	XP_005274267.1:n.*1293A>C
XM_005274215.2:c.*320A>C (BEST1)	XP_005274272.1:n.*320A>C
XM_011545229.1:c.*1293A>C (BEST1)	XP_011543531.1:n.*1293A>C
XM_011545230.1:c.*1293A>C (BEST1)	XP_011543532.1:n.*1293A>C
XM_011545231.1:c.*1293A>C (BEST1)	XP_011543533.1:n.*1293A>C
XM_011545233.1:c.*1293A>C (BEST1)	XP_011543535.1:n.*1293A>C
NM_001363591.1:c.*1293A>C (BEST1)	NP_001350520.1:n.*1293A>C
NM_001363592.1:c.*2183A>C (BEST1)	NP_001350521.1:n.*2183A>C
NM_001363593.1:c.*1293A>C (BEST1)	NP_001350522.1:n.*1293A>C
NR_134580.1:n.2861A>C (BEST1)
XM_005274210.4:c.*1293A>C (BEST1)	XP_005274267.1:n.*1293A>C
XM_005274215.4:c.*320A>C (BEST1)	XP_005274272.1:n.*320A>C
XM_005274216.4:c.*2183A>C (BEST1)	XP_005274273.1:n.*2183A>C
XM_005274219.4:c.*2089A>C (BEST1)	XP_005274276.1:n.*2089A>C
XM_005274221.4:c.*2089A>C (BEST1)	XP_005274278.1:n.*2089A>C
XM_011545229.3:c.*1293A>C (BEST1)	XP_011543531.1:n.*1293A>C
XM_011545230.3:c.*1293A>C (BEST1)	XP_011543532.1:n.*1293A>C
XM_011545233.3:c.*1293A>C (BEST1)	XP_011543535.1:n.*1293A>C
XM_017018230.2:c.*2183A>C (BEST1)	XP_016873719.1:n.*2183A>C
NM_002032.3:c.*285T>G (FTH1) MANE Select	NP_002023.2:n.*285T>G
NM_004183.4:c.*320A>C (BEST1) MANE Select	NP_004174.1:n.*320A>C
NM_001139443.2:c.*1293A>C (BEST1)	NP_001132915.1:n.*1293A>C
NM_001300786.2:c.*320A>C (BEST1)	NP_001287715.1:n.*320A>C
NM_001300787.2:c.*320A>C (BEST1)	NP_001287716.1:n.*320A>C
NM_001363591.2:c.*1293A>C (BEST1)	NP_001350520.1:n.*1293A>C
NM_001363593.2:c.*1293A>C (BEST1)	NP_001350522.1:n.*1293A>C
NR_134580.2:n.2394A>C (BEST1)