Canonical Allele Identifier: CA3041862
Gene: CFI HGNC NCBI

Linked Data

ClinVar Variation Id: 1431614
ClinVar RCV Id: RCV001967578
dbSNP Id: rs764347930

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109741098C>A , CM000666.2:g.109741098C>A GRCh38
NC_000004.11:g.110662254C>A , CM000666.1:g.110662254C>A GRCh37
NC_000004.10:g.110881703C>A NCBI36
NG_007569.1:g.65888G>T , LRG_48:g.65888G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1393G>T
ENST00000695845.1:n.1712+1393G>T
ENST00000695846.1:n.1571G>T
ENST00000394634.7:c.1547G>T MANE Select ENSP00000378130.2:p.Gly516Val
ENST00000394635.8:c.1571G>T ENSP00000378131.3:p.Gly524Val
ENST00000645635.1:c.1534+1393G>T ENSP00000493607.1:n.1534+1393G>T
ENST00000394634.6:c.1547G>T ENSP00000378130.2:p.Gly516Val
ENST00000394635.7:c.1571G>T ENSP00000378131.3:p.Gly524Val
ENST00000504853.3:n.1964G>T
ENST00000512148.5:c.1526G>T ENSP00000427438.1:p.Gly509Val
ENST00000618244.4:c.1045-293G>T ENSP00000483416.1:n.1045-293G>T
NM_000204.3:c.1547G>T , LRG_48t1:c.1547G>T NP_000195.2:p.Gly516Val
XM_005262975.1:c.1571G>T XP_005263032.1:p.Gly524Val
XM_005262976.1:c.1526G>T XP_005263033.1:p.Gly509Val
XM_006714209.1:c.1568G>T XP_006714272.1:p.Gly523Val
XM_011531920.1:c.1558+1393G>T XP_011530222.1:n.1558+1393G>T
NM_000204.4:c.1547G>T NP_000195.2:p.Gly516Val
NM_001318057.1:c.1571G>T NP_001304986.1:p.Gly524Val
NM_001331035.1:c.1526G>T NP_001317964.1:p.Gly509Val
XM_011531920.2:c.1558+1393G>T XP_011530222.1:n.1558+1393G>T
XM_017008164.2:c.1534+1393G>T XP_016863653.1:n.1534+1393G>T
XM_017008165.2:c.1513+1393G>T XP_016863654.1:n.1513+1393G>T
XM_017008166.2:c.1534+1393G>T XP_016863655.1:n.1534+1393G>T
NM_001318057.2:c.1571G>T NP_001304986.2:p.Gly524Val
NM_001331035.2:c.1526G>T NP_001317964.1:p.Gly509Val
NM_001375278.1:c.1558+1393G>T NP_001362207.1:n.1558+1393G>T
NM_001375279.1:c.1534+1393G>T NP_001362208.1:n.1534+1393G>T
NM_001375280.1:c.1513+1393G>T NP_001362209.1:n.1513+1393G>T
NM_001375281.1:c.1534+1393G>T NP_001362210.1:n.1534+1393G>T
NM_001375282.1:c.1513+1393G>T NP_001362211.1:n.1513+1393G>T
NM_001375283.1:c.1490G>T NP_001362212.1:p.Gly497Val
NM_001375284.1:c.938G>T NP_001362213.1:p.Gly313Val
NR_164671.1:n.1294G>T
NR_164672.1:n.1597G>T
NR_164673.1:n.1571G>T
NM_000204.5:c.1547G>T MANE Select NP_000195.3:p.Gly516Val