Canonical Allele Identifier: CA1977539052

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1942394144
• gnomAD v4: 11-61964616-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964616G>A , CM000673.2:g.61964616G>A	GRCh38
NC_000011.9:g.61732088G>A , CM000673.1:g.61732088G>A	GRCh37
NC_000011.8:g.61488664G>A	NCBI36
NG_008346.1:g.8045C>T
NG_009033.1:g.19733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*111C>T (FTH1)	ENSP00000484477.1:n.*111C>T
ENST00000273550.12:c.*111C>T (FTH1) MANE Select	ENSP00000273550.7:n.*111C>T
ENST00000273550.11:c.*111C>T (FTH1)	ENSP00000273550.7:n.*111C>T
ENST00000449131.6:c.*1467G>A (BEST1)	ENSP00000399709.2:n.*1467G>A
ENST00000526640.5:c.*111C>T (FTH1)	ENSP00000433321.1:n.*111C>T
ENST00000529191.5:c.114+2696C>T (FTH1)	ENSP00000431659.1:n.114+2696C>T
ENST00000529631.5:c.114+2696C>T (FTH1)	ENSP00000431575.1:n.114+2696C>T
ENST00000530019.5:c.261+753C>T (FTH1)	ENSP00000433470.1:n.261+753C>T
ENST00000532601.1:c.*111C>T (FTH1)	ENSP00000435111.1:n.*111C>T
ENST00000532829.5:c.*368C>T (FTH1)	ENSP00000432223.1:n.*368C>T
ENST00000534180.1:c.*572C>T (FTH1)	ENSP00000434403.1:n.*572C>T
ENST00000620041.4:c.*111C>T (FTH1)	ENSP00000484477.1:n.*111C>T
NM_002032.2:c.*111C>T (FTH1)	NP_002023.2:n.*111C>T
NM_002032.3:c.*111C>T (FTH1) MANE Select	NP_002023.2:n.*111C>T
NM_001139443.2:c.*1467G>A (BEST1)	NP_001132915.1:n.*1467G>A
NM_001363591.2:c.*1467G>A (BEST1)	NP_001350520.1:n.*1467G>A
NM_001363593.2:c.*1467G>A (BEST1)	NP_001350522.1:n.*1467G>A