Canonical Allele Identifier: CA1484716222
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109749594G= , CM000666.2:g.109749594G= GRCh38
NC_000004.11:g.110670750G= , CM000666.1:g.110670750G= GRCh37
NC_000004.10:g.110890199G= NCBI36
NG_007569.1:g.57392C= , LRG_48:g.57392C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1128C=
ENST00000695845.1:n.1127C=
ENST00000695846.1:n.973C=
ENST00000394634.7:c.949C= MANE Select ENSP00000378130.2:p.Arg317=
ENST00000394635.8:c.973C= ENSP00000378131.3:p.Arg325=
ENST00000645635.1:c.949C= ENSP00000493607.1:p.Arg317=
ENST00000394634.6:c.949C= ENSP00000378130.2:p.Arg317=
ENST00000394635.7:c.973C= ENSP00000378131.3:p.Arg325=
ENST00000504853.3:n.1366C=
ENST00000512148.5:c.928C= ENSP00000427438.1:p.Arg310=
ENST00000618244.4:c.949C= ENSP00000483416.1:p.Arg317=
NM_000204.3:c.949C= , LRG_48t1:c.949C= NP_000195.2:p.Arg317=
XM_005262975.1:c.973C= XP_005263032.1:p.Arg325=
XM_005262976.1:c.928C= XP_005263033.1:p.Arg310=
XM_006714209.1:c.970C= XP_006714272.1:p.Arg324=
XM_006714210.2:c.973C= XP_006714273.1:p.Arg325=
XM_011531920.1:c.973C= XP_011530222.1:p.Arg325=
NM_000204.4:c.949C= NP_000195.2:p.Arg317=
NM_001318057.1:c.973C= NP_001304986.1:p.Arg325=
NM_001331035.1:c.928C= NP_001317964.1:p.Arg310=
XM_006714210.4:c.973C= XP_006714273.1:p.Arg325=
XM_011531920.2:c.973C= XP_011530222.1:p.Arg325=
XM_017008164.2:c.949C= XP_016863653.1:p.Arg317=
XM_017008165.2:c.928C= XP_016863654.1:p.Arg310=
XM_017008166.2:c.949C= XP_016863655.1:p.Arg317=
NM_001318057.2:c.973C= NP_001304986.2:p.Arg325=
NM_001331035.2:c.928C= NP_001317964.1:p.Arg310=
NM_001375278.1:c.973C= NP_001362207.1:p.Arg325=
NM_001375279.1:c.949C= NP_001362208.1:p.Arg317=
NM_001375280.1:c.928C= NP_001362209.1:p.Arg310=
NM_001375281.1:c.949C= NP_001362210.1:p.Arg317=
NM_001375282.1:c.928C= NP_001362211.1:p.Arg310=
NM_001375283.1:c.892C= NP_001362212.1:p.Arg298=
NM_001375284.1:c.340C= NP_001362213.1:p.Arg114=
NR_164671.1:n.977C=
NR_164672.1:n.1001C=
NR_164673.1:n.977C=
NM_000204.5:c.949C= MANE Select NP_000195.3:p.Arg317=