Canonical Allele Identifier: CA1484711395
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109757621G= , CM000666.2:g.109757621G= GRCh38
NC_000004.11:g.110678777G= , CM000666.1:g.110678777G= GRCh37
NC_000004.10:g.110898226G= NCBI36
NG_007569.1:g.49365C= , LRG_48:g.49365C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1083+142C=
ENST00000695845.1:n.1082+142C=
ENST00000695846.1:n.928+142C=
ENST00000394634.7:c.904+142C= MANE Select ENSP00000378130.2:n.904+142C=
ENST00000394635.8:c.928+142C= ENSP00000378131.3:n.928+142C=
ENST00000645635.1:c.904+142C= ENSP00000493607.1:n.904+142C=
ENST00000394634.6:c.904+142C= ENSP00000378130.2:n.904+142C=
ENST00000394635.7:c.928+142C= ENSP00000378131.3:n.928+142C=
ENST00000504853.3:n.1321+142C=
ENST00000512148.5:c.883+2649C= ENSP00000427438.1:n.883+2649C=
ENST00000618244.4:c.904+142C= ENSP00000483416.1:n.904+142C=
NM_000204.3:c.904+142C= , LRG_48t1:c.904+142C= NP_000195.2:n.904+142C=
XM_005262975.1:c.928+142C= XP_005263032.1:n.928+142C=
XM_005262976.1:c.883+2649C= XP_005263033.1:n.883+2649C=
XM_006714209.1:c.925+142C= XP_006714272.1:n.925+142C=
XM_006714210.2:c.928+142C= XP_006714273.1:n.928+142C=
XM_011531920.1:c.928+142C= XP_011530222.1:n.928+142C=
NM_000204.4:c.904+142C= NP_000195.2:n.904+142C=
NM_001318057.1:c.928+142C= NP_001304986.1:n.928+142C=
NM_001331035.1:c.883+2649C= NP_001317964.1:n.883+2649C=
XM_006714210.4:c.928+142C= XP_006714273.1:n.928+142C=
XM_011531920.2:c.928+142C= XP_011530222.1:n.928+142C=
XM_017008164.2:c.904+142C= XP_016863653.1:n.904+142C=
XM_017008165.2:c.883+2649C= XP_016863654.1:n.883+2649C=
XM_017008166.2:c.904+142C= XP_016863655.1:n.904+142C=
NM_001318057.2:c.928+142C= NP_001304986.2:n.928+142C=
NM_001331035.2:c.883+2649C= NP_001317964.1:n.883+2649C=
NM_001375278.1:c.928+142C= NP_001362207.1:n.928+142C=
NM_001375279.1:c.904+142C= NP_001362208.1:n.904+142C=
NM_001375280.1:c.883+2649C= NP_001362209.1:n.883+2649C=
NM_001375281.1:c.904+142C= NP_001362210.1:n.904+142C=
NM_001375282.1:c.883+2649C= NP_001362211.1:n.883+2649C=
NM_001375283.1:c.883+2649C= NP_001362212.1:n.883+2649C=
NM_001375284.1:c.295+142C= NP_001362213.1:n.295+142C=
NR_164671.1:n.932+142C=
NR_164672.1:n.956+142C=
NR_164673.1:n.932+142C=
NM_000204.5:c.904+142C= MANE Select NP_000195.3:n.904+142C=