Canonical Allele Identifier: CA599526044

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1386355662
• gnomAD v2: 11-61731950-G-A
• MyVariant Identifiers: chr11:g.61731950G>A (hg19) ; chr11:g.61964478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964478G>A , CM000673.2:g.61964478G>A	GRCh38
NC_000011.9:g.61731950G>A , CM000673.1:g.61731950G>A	GRCh37
NC_000011.8:g.61488526G>A	NCBI36
NG_008346.1:g.8183C>T
NG_009033.1:g.19595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*249C>T (FTH1) MANE Select	ENSP00000273550.7:n.*249C>T
ENST00000273550.11:c.*249C>T (FTH1)	ENSP00000273550.7:n.*249C>T
ENST00000449131.6:c.*1329G>A (BEST1)	ENSP00000399709.2:n.*1329G>A
ENST00000529191.5:c.114+2834C>T (FTH1)	ENSP00000431659.1:n.114+2834C>T
ENST00000529631.5:c.114+2834C>T (FTH1)	ENSP00000431575.1:n.114+2834C>T
ENST00000530019.5:c.261+891C>T (FTH1)	ENSP00000433470.1:n.261+891C>T
NM_002032.2:c.*249C>T (FTH1)	NP_002023.2:n.*249C>T
NM_002032.3:c.*249C>T (FTH1) MANE Select	NP_002023.2:n.*249C>T
NM_001139443.2:c.*1329G>A (BEST1)	NP_001132915.1:n.*1329G>A
NM_001363591.2:c.*1329G>A (BEST1)	NP_001350520.1:n.*1329G>A
NM_001363593.2:c.*1329G>A (BEST1)	NP_001350522.1:n.*1329G>A