Canonical Allele Identifier: CA679008675

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1328211190
• gnomAD v3: 11-61964569-T-TA
• gnomAD v4: 11-61964569-T-TA
• MyVariant Identifiers: chr11:g.61732041_61732042insA (hg19) ; chr11:g.61964569_61964570insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964570dup , CM000673.2:g.61964570dup	GRCh38
NC_000011.9:g.61732042dup , CM000673.1:g.61732042dup	GRCh37
NC_000011.8:g.61488618dup	NCBI36
NG_008346.1:g.8091dup
NG_009033.1:g.19687dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*157dup (FTH1)	ENSP00000484477.1:n.*157dup
ENST00000273550.12:c.*157dup (FTH1) MANE Select	ENSP00000273550.7:n.*157dup
ENST00000273550.11:c.*157dup (FTH1)	ENSP00000273550.7:n.*157dup
ENST00000449131.6:c.*1421dup (BEST1)	ENSP00000399709.2:n.*1421dup
ENST00000529191.5:c.114+2742dup (FTH1)	ENSP00000431659.1:n.114+2742dup
ENST00000529631.5:c.114+2742dup (FTH1)	ENSP00000431575.1:n.114+2742dup
ENST00000530019.5:c.261+799dup (FTH1)	ENSP00000433470.1:n.261+799dup
ENST00000532829.5:c.*414dup (FTH1)	ENSP00000432223.1:n.*414dup
ENST00000534180.1:c.*618dup (FTH1)	ENSP00000434403.1:n.*618dup
ENST00000620041.4:c.*157dup (FTH1)	ENSP00000484477.1:n.*157dup
NM_002032.2:c.*157dup (FTH1)	NP_002023.2:n.*157dup
NM_002032.3:c.*157dup (FTH1) MANE Select	NP_002023.2:n.*157dup
NM_001139443.2:c.*1421dup (BEST1)	NP_001132915.1:n.*1421dup
NM_001363591.2:c.*1421dup (BEST1)	NP_001350520.1:n.*1421dup
NM_001363593.2:c.*1421dup (BEST1)	NP_001350522.1:n.*1421dup