Canonical Allele Identifier: CA380853930

Gene: FTH1 BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61732281C>G (hg19) ; chr11:g.61964809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964809C>G , CM000673.2:g.61964809C>G	GRCh38
NC_000011.9:g.61732281C>G , CM000673.1:g.61732281C>G	GRCh37
NC_000011.8:g.61488857C>G	NCBI36
NG_008346.1:g.7852G>C
NG_009033.1:g.19926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.470G>C (FTH1)	ENSP00000484477.1:p.Arg157Pro
ENST00000273550.12:c.470G>C (FTH1) MANE Select	ENSP00000273550.7:p.Arg157Pro
ENST00000273550.11:c.470G>C (FTH1)	ENSP00000273550.7:p.Arg157Pro
ENST00000449131.6:c.*1660C>G (BEST1)	ENSP00000399709.2:n.*1660C>G
ENST00000526640.5:c.380G>C (FTH1)	ENSP00000433321.1:p.Arg127Pro
ENST00000529191.5:c.114+2503G>C (FTH1)	ENSP00000431659.1:n.114+2503G>C
ENST00000529631.5:c.114+2503G>C (FTH1)	ENSP00000431575.1:n.114+2503G>C
ENST00000530019.5:c.261+560G>C (FTH1)	ENSP00000433470.1:n.261+560G>C
ENST00000532601.1:c.260G>C (FTH1)	ENSP00000435111.1:p.Arg87Pro
ENST00000532829.5:c.*175G>C (FTH1)	ENSP00000432223.1:n.*175G>C
ENST00000534180.1:c.*379G>C (FTH1)	ENSP00000434403.1:n.*379G>C
ENST00000534719.1:n.726G>C (FTH1)
ENST00000620041.4:c.470G>C (FTH1)	ENSP00000484477.1:p.Arg157Pro
NM_002032.2:c.470G>C (FTH1)	NP_002023.2:p.Arg157Pro
NM_002032.3:c.470G>C (FTH1) MANE Select	NP_002023.2:p.Arg157Pro
NM_001139443.2:c.*1660C>G (BEST1)	NP_001132915.1:n.*1660C>G
NM_001363591.2:c.*1660C>G (BEST1)	NP_001350520.1:n.*1660C>G
NM_001363593.2:c.*1660C>G (BEST1)	NP_001350522.1:n.*1660C>G