Canonical Allele Identifier: CA380855371

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1942420506
• MyVariant Identifiers: chr11:g.61732556C>A (hg19) ; chr11:g.61965084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61965084C>A , CM000673.2:g.61965084C>A	GRCh38
NC_000011.9:g.61732556C>A , CM000673.1:g.61732556C>A	GRCh37
NC_000011.8:g.61489132C>A	NCBI36
NG_008346.1:g.7577G>T
NG_009033.1:g.20201C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.290G>T (FTH1)	ENSP00000484477.1:p.Gly97Val
ENST00000273550.12:c.290G>T (FTH1) MANE Select	ENSP00000273550.7:p.Gly97Val
ENST00000273550.11:c.290G>T (FTH1)	ENSP00000273550.7:p.Gly97Val
ENST00000449131.6:c.*1935C>A (BEST1)	ENSP00000399709.2:n.*1935C>A
ENST00000526640.5:c.200G>T (FTH1)	ENSP00000433321.1:p.Gly67Val
ENST00000529191.5:c.114+2228G>T (FTH1)	ENSP00000431659.1:n.114+2228G>T
ENST00000529548.1:c.80G>T (FTH1)	ENSP00000436947.1:p.Gly27Val
ENST00000529631.5:c.114+2228G>T (FTH1)	ENSP00000431575.1:n.114+2228G>T
ENST00000530019.5:c.261+285G>T (FTH1)	ENSP00000433470.1:n.261+285G>T
ENST00000532601.1:c.80G>T (FTH1)	ENSP00000435111.1:p.Gly27Val
ENST00000532829.5:c.283G>T (FTH1)	ENSP00000432223.1:p.Gly95Cys
ENST00000533138.1:n.734G>T (FTH1)
ENST00000534180.1:c.*199G>T (FTH1)	ENSP00000434403.1:n.*199G>T
ENST00000534719.1:n.451G>T (FTH1)
ENST00000620041.4:c.290G>T (FTH1)	ENSP00000484477.1:p.Gly97Val
NM_002032.2:c.290G>T (FTH1)	NP_002023.2:p.Gly97Val
NM_002032.3:c.290G>T (FTH1) MANE Select	NP_002023.2:p.Gly97Val
NM_001139443.2:c.*1935C>A (BEST1)	NP_001132915.1:n.*1935C>A
NM_001363591.2:c.*1935C>A (BEST1)	NP_001350520.1:n.*1935C>A
NM_001363593.2:c.*1935C>A (BEST1)	NP_001350522.1:n.*1935C>A