Canonical Allele Identifier: CA474956579

Gene: FTH1 BEST1

Linked Data

• gnomAD v4: 11-61964751-C-A
• MyVariant Identifiers: chr11:g.61732223C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964751C>A , CM000673.2:g.61964751C>A	GRCh38
NC_000011.9:g.61732223C>A , CM000673.1:g.61732223C>A	GRCh37
NC_000011.8:g.61488799C>A	NCBI36
NG_008346.1:g.7910G>T
NG_009033.1:g.19868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.528G>T (FTH1)	ENSP00000484477.1:p.Leu176=
ENST00000273550.12:c.528G>T (FTH1) MANE Select	ENSP00000273550.7:p.Leu176=
ENST00000273550.11:c.528G>T (FTH1)	ENSP00000273550.7:p.Leu176=
ENST00000449131.6:c.*1602C>A (BEST1)	ENSP00000399709.2:n.*1602C>A
ENST00000526640.5:c.438G>T (FTH1)	ENSP00000433321.1:p.Leu146=
ENST00000529191.5:c.114+2561G>T (FTH1)	ENSP00000431659.1:n.114+2561G>T
ENST00000529631.5:c.114+2561G>T (FTH1)	ENSP00000431575.1:n.114+2561G>T
ENST00000530019.5:c.261+618G>T (FTH1)	ENSP00000433470.1:n.261+618G>T
ENST00000532601.1:c.318G>T (FTH1)	ENSP00000435111.1:p.Leu106=
ENST00000532829.5:c.*233G>T (FTH1)	ENSP00000432223.1:n.*233G>T
ENST00000534180.1:c.*437G>T (FTH1)	ENSP00000434403.1:n.*437G>T
ENST00000534719.1:n.784G>T (FTH1)
ENST00000620041.4:c.528G>T (FTH1)	ENSP00000484477.1:p.Leu176=
NM_002032.2:c.528G>T (FTH1)	NP_002023.2:p.Leu176=
NM_002032.3:c.528G>T (FTH1) MANE Select	NP_002023.2:p.Leu176=
NM_001139443.2:c.*1602C>A (BEST1)	NP_001132915.1:n.*1602C>A
NM_001363591.2:c.*1602C>A (BEST1)	NP_001350520.1:n.*1602C>A
NM_001363593.2:c.*1602C>A (BEST1)	NP_001350522.1:n.*1602C>A