Canonical Allele Identifier: CA380854469

Linked Data

ClinVar Variation Id: 2538734
ClinVar RCV Id: RCV003261464
dbSNP Id: rs1237079690

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61965019G>A , CM000673.2:g.61965019G>A GRCh38
NC_000011.9:g.61732491G>A , CM000673.1:g.61732491G>A GRCh37
NC_000011.8:g.61489067G>A NCBI36
NG_008346.1:g.7642C>T
NG_009033.1:g.20136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.355C>T (FTH1) ENSP00000484477.1:p.His119Tyr
ENST00000273550.12:c.355C>T (FTH1) MANE Select ENSP00000273550.7:p.His119Tyr
ENST00000273550.11:c.355C>T (FTH1) ENSP00000273550.7:p.His119Tyr
ENST00000449131.6:c.*1870G>A (BEST1) ENSP00000399709.2:n.*1870G>A
ENST00000526640.5:c.265C>T (FTH1) ENSP00000433321.1:p.His89Tyr
ENST00000529191.5:c.114+2293C>T (FTH1) ENSP00000431659.1:n.114+2293C>T
ENST00000529548.1:c.145C>T (FTH1) ENSP00000436947.1:p.His49Tyr
ENST00000529631.5:c.114+2293C>T (FTH1) ENSP00000431575.1:n.114+2293C>T
ENST00000530019.5:c.261+350C>T (FTH1) ENSP00000433470.1:n.261+350C>T
ENST00000532601.1:c.145C>T (FTH1) ENSP00000435111.1:p.His49Tyr
ENST00000532829.5:c.*60C>T (FTH1) ENSP00000432223.1:n.*60C>T
ENST00000533138.1:n.799C>T (FTH1)
ENST00000534180.1:c.*264C>T (FTH1) ENSP00000434403.1:n.*264C>T
ENST00000534719.1:n.516C>T (FTH1)
ENST00000620041.4:c.355C>T (FTH1) ENSP00000484477.1:p.His119Tyr
NM_002032.2:c.355C>T (FTH1) NP_002023.2:p.His119Tyr
NM_002032.3:c.355C>T (FTH1) MANE Select NP_002023.2:p.His119Tyr
NM_001139443.2:c.*1870G>A (BEST1) NP_001132915.1:n.*1870G>A
NM_001363591.2:c.*1870G>A (BEST1) NP_001350520.1:n.*1870G>A
NM_001363593.2:c.*1870G>A (BEST1) NP_001350522.1:n.*1870G>A