Canonical Allele Identifier: CA2501409148

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964970-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964970G>C , CM000673.2:g.61964970G>C	GRCh38
NC_000011.9:g.61732442G>C , CM000673.1:g.61732442G>C	GRCh37
NC_000011.8:g.61489018G>C	NCBI36
NG_008346.1:g.7691C>G
NG_009033.1:g.20087G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.387+17C>G (FTH1)	ENSP00000484477.1:n.387+17C>G
ENST00000273550.12:c.387+17C>G (FTH1) MANE Select	ENSP00000273550.7:n.387+17C>G
ENST00000273550.11:c.387+17C>G (FTH1)	ENSP00000273550.7:n.387+17C>G
ENST00000449131.6:c.*1821G>C (BEST1)	ENSP00000399709.2:n.*1821G>C
ENST00000526640.5:c.297+17C>G (FTH1)	ENSP00000433321.1:n.297+17C>G
ENST00000529191.5:c.114+2342C>G (FTH1)	ENSP00000431659.1:n.114+2342C>G
ENST00000529631.5:c.114+2342C>G (FTH1)	ENSP00000431575.1:n.114+2342C>G
ENST00000530019.5:c.261+399C>G (FTH1)	ENSP00000433470.1:n.261+399C>G
ENST00000532601.1:c.177+17C>G (FTH1)	ENSP00000435111.1:n.177+17C>G
ENST00000532829.5:c.*92+17C>G (FTH1)	ENSP00000432223.1:n.*92+17C>G
ENST00000533138.1:n.831+17C>G (FTH1)
ENST00000534180.1:c.*296+17C>G (FTH1)	ENSP00000434403.1:n.*296+17C>G
ENST00000534719.1:n.565C>G (FTH1)
ENST00000620041.4:c.387+17C>G (FTH1)	ENSP00000484477.1:n.387+17C>G
NM_002032.2:c.387+17C>G (FTH1)	NP_002023.2:n.387+17C>G
NM_002032.3:c.387+17C>G (FTH1) MANE Select	NP_002023.2:n.387+17C>G
NM_001139443.2:c.*1821G>C (BEST1)	NP_001132915.1:n.*1821G>C
NM_001363591.2:c.*1821G>C (BEST1)	NP_001350520.1:n.*1821G>C
NM_001363593.2:c.*1821G>C (BEST1)	NP_001350522.1:n.*1821G>C