Canonical Allele Identifier: CA380853631

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61964763G>C , CM000673.2:g.61964763G>C GRCh38
NC_000011.9:g.61732235G>C , CM000673.1:g.61732235G>C GRCh37
NC_000011.8:g.61488811G>C NCBI36
NG_008346.1:g.7898C>G
NG_009033.1:g.19880G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000620041.5:c.516C>G (FTH1) ENSP00000484477.1:p.Asp172Glu
ENST00000273550.12:c.516C>G (FTH1) MANE Select ENSP00000273550.7:p.Asp172Glu
ENST00000273550.11:c.516C>G (FTH1) ENSP00000273550.7:p.Asp172Glu
ENST00000449131.6:c.*1614G>C (BEST1) ENSP00000399709.2:n.*1614G>C
ENST00000526640.5:c.426C>G (FTH1) ENSP00000433321.1:p.Asp142Glu
ENST00000529191.5:c.114+2549C>G (FTH1) ENSP00000431659.1:n.114+2549C>G
ENST00000529631.5:c.114+2549C>G (FTH1) ENSP00000431575.1:n.114+2549C>G
ENST00000530019.5:c.261+606C>G (FTH1) ENSP00000433470.1:n.261+606C>G
ENST00000532601.1:c.306C>G (FTH1) ENSP00000435111.1:p.Asp102Glu
ENST00000532829.5:c.*221C>G (FTH1) ENSP00000432223.1:n.*221C>G
ENST00000534180.1:c.*425C>G (FTH1) ENSP00000434403.1:n.*425C>G
ENST00000534719.1:n.772C>G (FTH1)
ENST00000620041.4:c.516C>G (FTH1) ENSP00000484477.1:p.Asp172Glu
NM_002032.2:c.516C>G (FTH1) NP_002023.2:p.Asp172Glu
NM_002032.3:c.516C>G (FTH1) MANE Select NP_002023.2:p.Asp172Glu
NM_001139443.2:c.*1614G>C (BEST1) NP_001132915.1:n.*1614G>C
NM_001363591.2:c.*1614G>C (BEST1) NP_001350520.1:n.*1614G>C
NM_001363593.2:c.*1614G>C (BEST1) NP_001350522.1:n.*1614G>C