Canonical Allele Identifier: CA357863751
Gene: CFI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109764555A>G , CM000666.2:g.109764555A>G GRCh38
NC_000004.11:g.110685711A>G , CM000666.1:g.110685711A>G GRCh37
NC_000004.10:g.110905160A>G NCBI36
NG_007569.1:g.42431T>C , LRG_48:g.42431T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695844.1:n.643T>C
ENST00000695845.1:n.642T>C
ENST00000394634.7:c.464T>C MANE Select ENSP00000378130.2:p.Leu155Pro
ENST00000394635.8:c.464T>C ENSP00000378131.3:p.Leu155Pro
ENST00000645635.1:c.464T>C ENSP00000493607.1:p.Leu155Pro
ENST00000394634.6:c.464T>C ENSP00000378130.2:p.Leu155Pro
ENST00000394635.7:c.464T>C ENSP00000378131.3:p.Leu155Pro
ENST00000510800.1:c.464T>C ENSP00000422009.1:p.Leu155Pro
ENST00000512148.5:c.464T>C ENSP00000427438.1:p.Leu155Pro
ENST00000618244.4:c.464T>C ENSP00000483416.1:p.Leu155Pro
NM_000204.3:c.464T>C , LRG_48t1:c.464T>C NP_000195.2:p.Leu155Pro
XM_005262975.1:c.464T>C XP_005263032.1:p.Leu155Pro
XM_005262976.1:c.464T>C XP_005263033.1:p.Leu155Pro
XM_006714209.1:c.464T>C XP_006714272.1:p.Leu155Pro
XM_006714210.2:c.464T>C XP_006714273.1:p.Leu155Pro
XM_011531920.1:c.464T>C XP_011530222.1:p.Leu155Pro
NM_000204.4:c.464T>C NP_000195.2:p.Leu155Pro
NM_001318057.1:c.464T>C NP_001304986.1:p.Leu155Pro
NM_001331035.1:c.464T>C NP_001317964.1:p.Leu155Pro
XM_006714210.4:c.464T>C XP_006714273.1:p.Leu155Pro
XM_011531920.2:c.464T>C XP_011530222.1:p.Leu155Pro
XM_017008164.2:c.464T>C XP_016863653.1:p.Leu155Pro
XM_017008165.2:c.464T>C XP_016863654.1:p.Leu155Pro
XM_017008166.2:c.464T>C XP_016863655.1:p.Leu155Pro
NM_001318057.2:c.464T>C NP_001304986.2:p.Leu155Pro
NM_001331035.2:c.464T>C NP_001317964.1:p.Leu155Pro
NM_001375278.1:c.464T>C NP_001362207.1:p.Leu155Pro
NM_001375279.1:c.464T>C NP_001362208.1:p.Leu155Pro
NM_001375280.1:c.464T>C NP_001362209.1:p.Leu155Pro
NM_001375281.1:c.464T>C NP_001362210.1:p.Leu155Pro
NM_001375282.1:c.464T>C NP_001362211.1:p.Leu155Pro
NM_001375283.1:c.464T>C NP_001362212.1:p.Leu155Pro
NM_001375284.1:c.-127-2863T>C NP_001362213.1:n.-127-2863T>C
NR_164671.1:n.492T>C
NR_164672.1:n.492T>C
NR_164673.1:n.492T>C
NM_000204.5:c.464T>C MANE Select NP_000195.3:p.Leu155Pro