Canonical Allele Identifier: CA1484705284
Gene: CFI HGNC NCBI

Linked Data

dbSNP Id: rs1723748918

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109741156T>A , CM000666.2:g.109741156T>A GRCh38
NC_000004.11:g.110662312T>A , CM000666.1:g.110662312T>A GRCh37
NC_000004.10:g.110881761T>A NCBI36
NG_007569.1:g.65830A>T , LRG_48:g.65830A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1335A>T
ENST00000695845.1:n.1712+1335A>T
ENST00000695846.1:n.1559-46A>T
ENST00000394634.7:c.1535-46A>T MANE Select ENSP00000378130.2:n.1535-46A>T
ENST00000394635.8:c.1559-46A>T ENSP00000378131.3:n.1559-46A>T
ENST00000645635.1:c.1534+1335A>T ENSP00000493607.1:n.1534+1335A>T
ENST00000394634.6:c.1535-46A>T ENSP00000378130.2:n.1535-46A>T
ENST00000394635.7:c.1559-46A>T ENSP00000378131.3:n.1559-46A>T
ENST00000504853.3:n.1952-46A>T
ENST00000512148.5:c.1514-46A>T ENSP00000427438.1:n.1514-46A>T
ENST00000618244.4:c.1045-351A>T ENSP00000483416.1:n.1045-351A>T
NM_000204.3:c.1535-46A>T , LRG_48t1:c.1535-46A>T NP_000195.2:n.1535-46A>T
XM_005262975.1:c.1559-46A>T XP_005263032.1:n.1559-46A>T
XM_005262976.1:c.1514-46A>T XP_005263033.1:n.1514-46A>T
XM_006714209.1:c.1556-46A>T XP_006714272.1:n.1556-46A>T
XM_011531920.1:c.1558+1335A>T XP_011530222.1:n.1558+1335A>T
NM_000204.4:c.1535-46A>T NP_000195.2:n.1535-46A>T
NM_001318057.1:c.1559-46A>T NP_001304986.1:n.1559-46A>T
NM_001331035.1:c.1514-46A>T NP_001317964.1:n.1514-46A>T
XM_011531920.2:c.1558+1335A>T XP_011530222.1:n.1558+1335A>T
XM_017008164.2:c.1534+1335A>T XP_016863653.1:n.1534+1335A>T
XM_017008165.2:c.1513+1335A>T XP_016863654.1:n.1513+1335A>T
XM_017008166.2:c.1534+1335A>T XP_016863655.1:n.1534+1335A>T
NM_001318057.2:c.1559-46A>T NP_001304986.2:n.1559-46A>T
NM_001331035.2:c.1514-46A>T NP_001317964.1:n.1514-46A>T
NM_001375278.1:c.1558+1335A>T NP_001362207.1:n.1558+1335A>T
NM_001375279.1:c.1534+1335A>T NP_001362208.1:n.1534+1335A>T
NM_001375280.1:c.1513+1335A>T NP_001362209.1:n.1513+1335A>T
NM_001375281.1:c.1534+1335A>T NP_001362210.1:n.1534+1335A>T
NM_001375282.1:c.1513+1335A>T NP_001362211.1:n.1513+1335A>T
NM_001375283.1:c.1478-46A>T NP_001362212.1:n.1478-46A>T
NM_001375284.1:c.926-46A>T NP_001362213.1:n.926-46A>T
NR_164671.1:n.1282-46A>T
NR_164672.1:n.1585-46A>T
NR_164673.1:n.1559-46A>T
NM_000204.5:c.1535-46A>T MANE Select NP_000195.3:n.1535-46A>T