Canonical Allele Identifier: CA3041982
Gene: CFI HGNC NCBI

Linked Data

dbSNP Id: rs758049059

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109746476_109746477dup , CM000666.2:g.109746476_109746477dup GRCh38
NC_000004.11:g.110667632_110667633dup , CM000666.1:g.110667632_110667633dup GRCh37
NC_000004.10:g.110887081_110887082dup NCBI36
NG_007569.1:g.60511_60512dup , LRG_48:g.60511_60512dup

Transcript Alleles

HGVS Amino-acid change
ENST00000695844.1:n.1355_1356dup
ENST00000695845.1:n.1354_1355dup
ENST00000695846.1:n.1200_1201dup
ENST00000394634.7:c.1176_1177dup MANE Select ENSP00000378130.2:p.Trp393TyrfsTer5
ENST00000394635.8:c.1200_1201dup ENSP00000378131.3:p.Trp401TyrfsTer5
ENST00000645635.1:c.1176_1177dup ENSP00000493607.1:p.Trp393TyrfsTer5
ENST00000394634.6:c.1176_1177dup ENSP00000378130.2:p.Trp393TyrfsTer5
ENST00000394635.7:c.1200_1201dup ENSP00000378131.3:p.Trp401TyrfsTer5
ENST00000504853.3:n.1593_1594dup
ENST00000512148.5:c.1155_1156dup ENSP00000427438.1:p.Trp386TyrfsTer5
ENST00000618244.4:c.1044+3024_1044+3025dup ENSP00000483416.1:n.1044+3024_1044+3025du...
NM_000204.3:c.1176_1177dup , LRG_48t1:c.1176_1177dup NP_000195.2:p.Trp393TyrfsTer5
XM_005262975.1:c.1200_1201dup XP_005263032.1:p.Trp401TyrfsTer5
XM_005262976.1:c.1155_1156dup XP_005263033.1:p.Trp386TyrfsTer5
XM_006714209.1:c.1197_1198dup XP_006714272.1:p.Trp400TyrfsTer5
XM_006714210.2:c.1200_1201dup XP_006714273.1:p.Trp401TyrfsTer5
XM_011531920.1:c.1200_1201dup XP_011530222.1:p.Trp401TyrfsTer5
NM_000204.4:c.1176_1177dup NP_000195.2:p.Trp393TyrfsTer5
NM_001318057.1:c.1200_1201dup NP_001304986.1:p.Trp401TyrfsTer5
NM_001331035.1:c.1155_1156dup NP_001317964.1:p.Trp386TyrfsTer5
XM_006714210.4:c.1200_1201dup XP_006714273.1:p.Trp401TyrfsTer5
XM_011531920.2:c.1200_1201dup XP_011530222.1:p.Trp401TyrfsTer5
XM_017008164.2:c.1176_1177dup XP_016863653.1:p.Trp393TyrfsTer5
XM_017008165.2:c.1155_1156dup XP_016863654.1:p.Trp386TyrfsTer5
XM_017008166.2:c.1176_1177dup XP_016863655.1:p.Trp393TyrfsTer5
NM_001318057.2:c.1200_1201dup NP_001304986.2:p.Trp401TyrfsTer5
NM_001331035.2:c.1155_1156dup NP_001317964.1:p.Trp386TyrfsTer5
NM_001375278.1:c.1200_1201dup NP_001362207.1:p.Trp401TyrfsTer5
NM_001375279.1:c.1176_1177dup NP_001362208.1:p.Trp393TyrfsTer5
NM_001375280.1:c.1155_1156dup NP_001362209.1:p.Trp386TyrfsTer5
NM_001375281.1:c.1176_1177dup NP_001362210.1:p.Trp393TyrfsTer5
NM_001375282.1:c.1155_1156dup NP_001362211.1:p.Trp386TyrfsTer5
NM_001375283.1:c.1119_1120dup NP_001362212.1:p.Trp374TyrfsTer5
NM_001375284.1:c.567_568dup NP_001362213.1:p.Trp190TyrfsTer5
NR_164671.1:n.1176+2743_1176+2744dup
NR_164672.1:n.1226_1227dup
NR_164673.1:n.1200_1201dup
NM_000204.5:c.1176_1177dup MANE Select NP_000195.3:p.Trp393TyrfsTer5