Canonical Allele Identifier: CA357856627
Gene: CFI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109746260T>G , CM000666.2:g.109746260T>G GRCh38
NC_000004.11:g.110667416T>G , CM000666.1:g.110667416T>G GRCh37
NC_000004.10:g.110886865T>G NCBI36
NG_007569.1:g.60726A>C , LRG_48:g.60726A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1570A>C
ENST00000695845.1:n.1569A>C
ENST00000695846.1:n.1415A>C
ENST00000394634.7:c.1391A>C MANE Select ENSP00000378130.2:p.Asn464Thr
ENST00000394635.8:c.1415A>C ENSP00000378131.3:p.Asn472Thr
ENST00000645635.1:c.1391A>C ENSP00000493607.1:p.Asn464Thr
ENST00000394634.6:c.1391A>C ENSP00000378130.2:p.Asn464Thr
ENST00000394635.7:c.1415A>C ENSP00000378131.3:p.Asn472Thr
ENST00000504853.3:n.1808A>C
ENST00000512148.5:c.1370A>C ENSP00000427438.1:p.Asn457Thr
ENST00000515512.1:n.33A>C
ENST00000618244.4:c.1044+3239A>C ENSP00000483416.1:n.1044+3239A>C
NM_000204.3:c.1391A>C , LRG_48t1:c.1391A>C NP_000195.2:p.Asn464Thr
XM_005262975.1:c.1415A>C XP_005263032.1:p.Asn472Thr
XM_005262976.1:c.1370A>C XP_005263033.1:p.Asn457Thr
XM_006714209.1:c.1412A>C XP_006714272.1:p.Asn471Thr
XM_006714210.2:c.1415A>C XP_006714273.1:p.Asn472Thr
XM_011531920.1:c.1415A>C XP_011530222.1:p.Asn472Thr
NM_000204.4:c.1391A>C NP_000195.2:p.Asn464Thr
NM_001318057.1:c.1415A>C NP_001304986.1:p.Asn472Thr
NM_001331035.1:c.1370A>C NP_001317964.1:p.Asn457Thr
XM_006714210.4:c.1415A>C XP_006714273.1:p.Asn472Thr
XM_011531920.2:c.1415A>C XP_011530222.1:p.Asn472Thr
XM_017008164.2:c.1391A>C XP_016863653.1:p.Asn464Thr
XM_017008165.2:c.1370A>C XP_016863654.1:p.Asn457Thr
XM_017008166.2:c.1391A>C XP_016863655.1:p.Asn464Thr
NM_001318057.2:c.1415A>C NP_001304986.2:p.Asn472Thr
NM_001331035.2:c.1370A>C NP_001317964.1:p.Asn457Thr
NM_001375278.1:c.1415A>C NP_001362207.1:p.Asn472Thr
NM_001375279.1:c.1391A>C NP_001362208.1:p.Asn464Thr
NM_001375280.1:c.1370A>C NP_001362209.1:p.Asn457Thr
NM_001375281.1:c.1391A>C NP_001362210.1:p.Asn464Thr
NM_001375282.1:c.1370A>C NP_001362211.1:p.Asn457Thr
NM_001375283.1:c.1334A>C NP_001362212.1:p.Asn445Thr
NM_001375284.1:c.782A>C NP_001362213.1:p.Asn261Thr
NR_164671.1:n.1176+2958A>C
NR_164672.1:n.1441A>C
NR_164673.1:n.1415A>C
NM_000204.5:c.1391A>C MANE Select NP_000195.3:p.Asn464Thr