Canonical Allele Identifier: CA380854366

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964991-G-C
• MyVariant Identifiers: chr11:g.61732463G>C (hg19) ; chr11:g.61964991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964991G>C , CM000673.2:g.61964991G>C	GRCh38
NC_000011.9:g.61732463G>C , CM000673.1:g.61732463G>C	GRCh37
NC_000011.8:g.61489039G>C	NCBI36
NG_008346.1:g.7670C>G
NG_009033.1:g.20108G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620041.5:c.383C>G (FTH1)	ENSP00000484477.1:p.Pro128Arg
ENST00000273550.12:c.383C>G (FTH1) MANE Select	ENSP00000273550.7:p.Pro128Arg
ENST00000273550.11:c.383C>G (FTH1)	ENSP00000273550.7:p.Pro128Arg
ENST00000449131.6:c.*1842G>C (BEST1)	ENSP00000399709.2:n.*1842G>C
ENST00000526640.5:c.293C>G (FTH1)	ENSP00000433321.1:p.Pro98Arg
ENST00000529191.5:c.114+2321C>G (FTH1)	ENSP00000431659.1:n.114+2321C>G
ENST00000529548.1:c.173C>G (FTH1)	ENSP00000436947.1:p.Pro58Arg
ENST00000529631.5:c.114+2321C>G (FTH1)	ENSP00000431575.1:n.114+2321C>G
ENST00000530019.5:c.261+378C>G (FTH1)	ENSP00000433470.1:n.261+378C>G
ENST00000532601.1:c.173C>G (FTH1)	ENSP00000435111.1:p.Pro58Arg
ENST00000532829.5:c.*88C>G (FTH1)	ENSP00000432223.1:n.*88C>G
ENST00000533138.1:n.827C>G (FTH1)
ENST00000534180.1:c.*292C>G (FTH1)	ENSP00000434403.1:n.*292C>G
ENST00000534719.1:n.544C>G (FTH1)
ENST00000620041.4:c.383C>G (FTH1)	ENSP00000484477.1:p.Pro128Arg
NM_002032.2:c.383C>G (FTH1)	NP_002023.2:p.Pro128Arg
NM_002032.3:c.383C>G (FTH1) MANE Select	NP_002023.2:p.Pro128Arg
NM_001139443.2:c.*1842G>C (BEST1)	NP_001132915.1:n.*1842G>C
NM_001363591.2:c.*1842G>C (BEST1)	NP_001350520.1:n.*1842G>C
NM_001363593.2:c.*1842G>C (BEST1)	NP_001350522.1:n.*1842G>C