Canonical Allele Identifier: CA380854359

Gene: FTH1 BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61732460T>A (hg19) ; chr11:g.61964988T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964988T>A , CM000673.2:g.61964988T>A	GRCh38
NC_000011.9:g.61732460T>A , CM000673.1:g.61732460T>A	GRCh37
NC_000011.8:g.61489036T>A	NCBI36
NG_008346.1:g.7673A>T
NG_009033.1:g.20105T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.386A>T (FTH1)	ENSP00000484477.1:p.His129Leu
ENST00000273550.12:c.386A>T (FTH1) MANE Select	ENSP00000273550.7:p.His129Leu
ENST00000273550.11:c.386A>T (FTH1)	ENSP00000273550.7:p.His129Leu
ENST00000449131.6:c.*1839T>A (BEST1)	ENSP00000399709.2:n.*1839T>A
ENST00000526640.5:c.296A>T (FTH1)	ENSP00000433321.1:p.His99Leu
ENST00000529191.5:c.114+2324A>T (FTH1)	ENSP00000431659.1:n.114+2324A>T
ENST00000529631.5:c.114+2324A>T (FTH1)	ENSP00000431575.1:n.114+2324A>T
ENST00000530019.5:c.261+381A>T (FTH1)	ENSP00000433470.1:n.261+381A>T
ENST00000532601.1:c.176A>T (FTH1)	ENSP00000435111.1:p.His59Leu
ENST00000532829.5:c.*91A>T (FTH1)	ENSP00000432223.1:n.*91A>T
ENST00000533138.1:n.830A>T (FTH1)
ENST00000534180.1:c.*295A>T (FTH1)	ENSP00000434403.1:n.*295A>T
ENST00000534719.1:n.547A>T (FTH1)
ENST00000620041.4:c.386A>T (FTH1)	ENSP00000484477.1:p.His129Leu
NM_002032.2:c.386A>T (FTH1)	NP_002023.2:p.His129Leu
NM_002032.3:c.386A>T (FTH1) MANE Select	NP_002023.2:p.His129Leu
NM_001139443.2:c.*1839T>A (BEST1)	NP_001132915.1:n.*1839T>A
NM_001363591.2:c.*1839T>A (BEST1)	NP_001350520.1:n.*1839T>A
NM_001363593.2:c.*1839T>A (BEST1)	NP_001350522.1:n.*1839T>A