Canonical Allele Identifier: CA3041930
Gene: CFI HGNC NCBI

Linked Data

ClinVar Variation Id: 2151988
ClinVar RCV Id: RCV003074927
dbSNP Id: rs750018382

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109746297C>A , CM000666.2:g.109746297C>A GRCh38
NC_000004.11:g.110667453C>A , CM000666.1:g.110667453C>A GRCh37
NC_000004.10:g.110886902C>A NCBI36
NG_007569.1:g.60689G>T , LRG_48:g.60689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1533G>T
ENST00000695845.1:n.1532G>T
ENST00000695846.1:n.1378G>T
ENST00000394634.7:c.1354G>T MANE Select ENSP00000378130.2:p.Ala452Ser
ENST00000394635.8:c.1378G>T ENSP00000378131.3:p.Ala460Ser
ENST00000645635.1:c.1354G>T ENSP00000493607.1:p.Ala452Ser
ENST00000394634.6:c.1354G>T ENSP00000378130.2:p.Ala452Ser
ENST00000394635.7:c.1378G>T ENSP00000378131.3:p.Ala460Ser
ENST00000504853.3:n.1771G>T
ENST00000512148.5:c.1333G>T ENSP00000427438.1:p.Ala445Ser
ENST00000618244.4:c.1044+3202G>T ENSP00000483416.1:n.1044+3202G>T
NM_000204.3:c.1354G>T , LRG_48t1:c.1354G>T NP_000195.2:p.Ala452Ser
XM_005262975.1:c.1378G>T XP_005263032.1:p.Ala460Ser
XM_005262976.1:c.1333G>T XP_005263033.1:p.Ala445Ser
XM_006714209.1:c.1375G>T XP_006714272.1:p.Ala459Ser
XM_006714210.2:c.1378G>T XP_006714273.1:p.Ala460Ser
XM_011531920.1:c.1378G>T XP_011530222.1:p.Ala460Ser
NM_000204.4:c.1354G>T NP_000195.2:p.Ala452Ser
NM_001318057.1:c.1378G>T NP_001304986.1:p.Ala460Ser
NM_001331035.1:c.1333G>T NP_001317964.1:p.Ala445Ser
XM_006714210.4:c.1378G>T XP_006714273.1:p.Ala460Ser
XM_011531920.2:c.1378G>T XP_011530222.1:p.Ala460Ser
XM_017008164.2:c.1354G>T XP_016863653.1:p.Ala452Ser
XM_017008165.2:c.1333G>T XP_016863654.1:p.Ala445Ser
XM_017008166.2:c.1354G>T XP_016863655.1:p.Ala452Ser
NM_001318057.2:c.1378G>T NP_001304986.2:p.Ala460Ser
NM_001331035.2:c.1333G>T NP_001317964.1:p.Ala445Ser
NM_001375278.1:c.1378G>T NP_001362207.1:p.Ala460Ser
NM_001375279.1:c.1354G>T NP_001362208.1:p.Ala452Ser
NM_001375280.1:c.1333G>T NP_001362209.1:p.Ala445Ser
NM_001375281.1:c.1354G>T NP_001362210.1:p.Ala452Ser
NM_001375282.1:c.1333G>T NP_001362211.1:p.Ala445Ser
NM_001375283.1:c.1297G>T NP_001362212.1:p.Ala433Ser
NM_001375284.1:c.745G>T NP_001362213.1:p.Ala249Ser
NR_164671.1:n.1176+2921G>T
NR_164672.1:n.1404G>T
NR_164673.1:n.1378G>T
NM_000204.5:c.1354G>T MANE Select NP_000195.3:p.Ala452Ser