Canonical Allele Identifier: CA3041802
Gene: CFI HGNC NCBI

Linked Data

ClinVar Variation Id: 347142
ClinVar RCV Id: RCV000287494
dbSNP Id: rs77449037

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109740749A>G , CM000666.2:g.109740749A>G GRCh38
NC_000004.11:g.110661905A>G , CM000666.1:g.110661905A>G GRCh37
NC_000004.10:g.110881354A>G NCBI36
NG_007569.1:g.66237T>C , LRG_48:g.66237T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1742T>C
ENST00000695845.1:n.1712+1742T>C
ENST00000695846.1:n.1920T>C
ENST00000394634.7:c.*144T>C MANE Select ENSP00000378130.2:n.*144T>C
ENST00000394635.8:c.*144T>C ENSP00000378131.3:n.*144T>C
ENST00000645635.1:c.1534+1742T>C ENSP00000493607.1:n.1534+1742T>C
ENST00000394634.6:c.*144T>C ENSP00000378130.2:n.*144T>C
ENST00000394635.7:c.*144T>C ENSP00000378131.3:n.*144T>C
ENST00000504853.3:n.2313T>C
ENST00000512148.5:c.*144T>C ENSP00000427438.1:n.*144T>C
ENST00000618244.4:c.1101T>C ENSP00000483416.1:p.Tyr367=
NM_000204.3:c.*144T>C , LRG_48t1:c.*144T>C NP_000195.2:n.*144T>C
XM_005262975.1:c.*144T>C XP_005263032.1:n.*144T>C
XM_005262976.1:c.*144T>C XP_005263033.1:n.*144T>C
XM_006714209.1:c.*144T>C XP_006714272.1:n.*144T>C
XM_011531920.1:c.1558+1742T>C XP_011530222.1:n.1558+1742T>C
NM_000204.4:c.*144T>C NP_000195.2:n.*144T>C
NM_001318057.1:c.*144T>C NP_001304986.1:n.*144T>C
NM_001331035.1:c.*144T>C NP_001317964.1:n.*144T>C
XM_011531920.2:c.1558+1742T>C XP_011530222.1:n.1558+1742T>C
XM_017008164.2:c.1534+1742T>C XP_016863653.1:n.1534+1742T>C
XM_017008165.2:c.1513+1742T>C XP_016863654.1:n.1513+1742T>C
XM_017008166.2:c.1534+1742T>C XP_016863655.1:n.1534+1742T>C
NM_001318057.2:c.*144T>C NP_001304986.2:n.*144T>C
NM_001331035.2:c.*144T>C NP_001317964.1:n.*144T>C
NM_001375278.1:c.1558+1742T>C NP_001362207.1:n.1558+1742T>C
NM_001375279.1:c.1534+1742T>C NP_001362208.1:n.1534+1742T>C
NM_001375280.1:c.1513+1742T>C NP_001362209.1:n.1513+1742T>C
NM_001375281.1:c.1534+1742T>C NP_001362210.1:n.1534+1742T>C
NM_001375282.1:c.1513+1742T>C NP_001362211.1:n.1513+1742T>C
NM_001375283.1:c.*144T>C NP_001362212.1:n.*144T>C
NM_001375284.1:c.*144T>C NP_001362213.1:n.*144T>C
NR_164671.1:n.1643T>C
NR_164672.1:n.1946T>C
NR_164673.1:n.1920T>C
NM_000204.5:c.*144T>C MANE Select NP_000195.3:n.*144T>C