Canonical Allele Identifier: CA6041234

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs772282996
• ExAC: 11:61732367 C / CA
• gnomAD v2: 11-61732367-C-CA
• gnomAD v3: 11-61964895-C-CA
• gnomAD v4: 11-61964895-C-CA
• MyVariant Identifiers: chr11:g.61732367_61732368insA (hg19) ; chr11:g.61964895_61964896insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964899dup , CM000673.2:g.61964899dup	GRCh38
NC_000011.9:g.61732371dup , CM000673.1:g.61732371dup	GRCh37
NC_000011.8:g.61488947dup	NCBI36
NG_008346.1:g.7765dup
NG_009033.1:g.20016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.388-5dup (FTH1)	ENSP00000484477.1:n.388-5dup
ENST00000273550.12:c.388-5dup (FTH1) MANE Select	ENSP00000273550.7:n.388-5dup
ENST00000273550.11:c.388-5dup (FTH1)	ENSP00000273550.7:n.388-5dup
ENST00000449131.6:c.*1750dup (BEST1)	ENSP00000399709.2:n.*1750dup
ENST00000526640.5:c.298-5dup (FTH1)	ENSP00000433321.1:n.298-5dup
ENST00000529191.5:c.114+2416dup (FTH1)	ENSP00000431659.1:n.114+2416dup
ENST00000529631.5:c.114+2416dup (FTH1)	ENSP00000431575.1:n.114+2416dup
ENST00000530019.5:c.261+473dup (FTH1)	ENSP00000433470.1:n.261+473dup
ENST00000532601.1:c.178-5dup (FTH1)	ENSP00000435111.1:n.178-5dup
ENST00000532829.5:c.*93-5dup (FTH1)	ENSP00000432223.1:n.*93-5dup
ENST00000533138.1:n.832-5dup (FTH1)
ENST00000534180.1:c.*297-5dup (FTH1)	ENSP00000434403.1:n.*297-5dup
ENST00000534719.1:n.639dup (FTH1)
ENST00000620041.4:c.388-5dup (FTH1)	ENSP00000484477.1:n.388-5dup
NM_002032.2:c.388-5dup (FTH1)	NP_002023.2:n.388-5dup
NM_002032.3:c.388-5dup (FTH1) MANE Select	NP_002023.2:n.388-5dup
NM_001139443.2:c.*1750dup (BEST1)	NP_001132915.1:n.*1750dup
NM_001363591.2:c.*1750dup (BEST1)	NP_001350520.1:n.*1750dup
NM_001363593.2:c.*1750dup (BEST1)	NP_001350522.1:n.*1750dup