Canonical Allele Identifier: CA357860746
Gene: CFI HGNC NCBI

Linked Data

dbSNP Id: rs11098044

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109757769T>A , CM000666.2:g.109757769T>A GRCh38
NC_000004.11:g.110678925T>A , CM000666.1:g.110678925T>A GRCh37
NC_000004.10:g.110898374T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1077A>T
ENST00000695845.1:n.1076A>T
ENST00000695846.1:n.922A>T
ENST00000394634.7:c.898A>T MANE Select ENSP00000378130.2:p.Thr300Ser
ENST00000394635.8:c.922A>T ENSP00000378131.3:p.Thr308Ser
ENST00000645635.1:c.898A>T ENSP00000493607.1:p.Thr300Ser
ENST00000394634.6:c.898A>T ENSP00000378130.2:p.Thr300Ser
ENST00000394635.7:c.922A>T ENSP00000378131.3:p.Thr308Ser
ENST00000504853.3:n.1315A>T
ENST00000512148.5:c.883+2501A>T ENSP00000427438.1:n.883+2501A>T
ENST00000618244.4:c.898A>T ENSP00000483416.1:p.Thr300Ser
XM_005262975.1:c.922A>T XP_005263032.1:p.Thr308Ser
XM_005262976.1:c.883+2501A>T XP_005263033.1:n.883+2501A>T
XM_006714209.1:c.919A>T XP_006714272.1:p.Thr307Ser
XM_006714210.2:c.922A>T XP_006714273.1:p.Thr308Ser
XM_011531920.1:c.922A>T XP_011530222.1:p.Thr308Ser
NM_001331035.1:c.883+2501A>T NP_001317964.1:n.883+2501A>T
XM_006714210.4:c.922A>T XP_006714273.1:p.Thr308Ser
XM_011531920.2:c.922A>T XP_011530222.1:p.Thr308Ser
XM_017008164.2:c.898A>T XP_016863653.1:p.Thr300Ser
XM_017008165.2:c.883+2501A>T XP_016863654.1:n.883+2501A>T
XM_017008166.2:c.898A>T XP_016863655.1:p.Thr300Ser
NM_001318057.2:c.922A>T NP_001304986.2:p.Thr308Ser
NM_001331035.2:c.883+2501A>T NP_001317964.1:n.883+2501A>T
NM_001375278.1:c.922A>T NP_001362207.1:p.Thr308Ser
NM_001375279.1:c.898A>T NP_001362208.1:p.Thr300Ser
NM_001375280.1:c.883+2501A>T NP_001362209.1:n.883+2501A>T
NM_001375281.1:c.898A>T NP_001362210.1:p.Thr300Ser
NM_001375282.1:c.883+2501A>T NP_001362211.1:n.883+2501A>T
NM_001375283.1:c.883+2501A>T NP_001362212.1:n.883+2501A>T
NM_001375284.1:c.289A>T NP_001362213.1:p.Thr97Ser
NR_164671.1:n.926A>T
NR_164672.1:n.950A>T
NR_164673.1:n.926A>T
NM_000204.5:c.898A>T MANE Select NP_000195.3:p.Thr300Ser