Canonical Allele Identifier: CA1484714344
Community Standard Title: NM_000204.5(CFI):c.870A= (p.Glu290=)
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109760283T= , CM000666.2:g.109760283T= GRCh38
NC_000004.11:g.110681439T= , CM000666.1:g.110681439T= GRCh37
NC_000004.10:g.110900888T= NCBI36
NG_007569.1:g.46703A= , LRG_48:g.46703A=

Transcript Alleles

HGVS Amino-acid Change
NM_000204.5:c.870A= MANE Select NP_000195.3:p.Glu290=
ENST00000394634.7:c.870A= MANE Select ENSP00000378130.2:p.Glu290=
NM_000204.3:c.870A= , LRG_48t1:c.870A= NP_000195.2:p.Glu290=
NM_000204.4:c.870A= NP_000195.2:p.Glu290=
NM_001318057.1:c.870A= NP_001304986.1:p.Glu290=
NM_001318057.2:c.870A= NP_001304986.2:p.Glu290=
NM_001331035.1:c.870A= NP_001317964.1:p.Glu290=
NM_001331035.2:c.870A= NP_001317964.1:p.Glu290=
NM_001375278.1:c.870A= NP_001362207.1:p.Glu290=
NM_001375279.1:c.870A= NP_001362208.1:p.Glu290=
NM_001375280.1:c.870A= NP_001362209.1:p.Glu290=
NM_001375281.1:c.870A= NP_001362210.1:p.Glu290=
NM_001375282.1:c.870A= NP_001362211.1:p.Glu290=
NM_001375283.1:c.870A= NP_001362212.1:p.Glu290=
NM_001375284.1:c.261A= NP_001362213.1:p.Glu87=
NR_164671.1:n.898A=
NR_164672.1:n.898A=
NR_164673.1:n.898A=
ENST00000394634.6:c.870A= ENSP00000378130.2:p.Glu290=
ENST00000394635.7:c.870A= ENSP00000378131.3:p.Glu290=
ENST00000394635.8:c.870A= ENSP00000378131.3:p.Glu290=
ENST00000504853.3:n.1287A=
ENST00000512148.5:c.870A= ENSP00000427438.1:p.Glu290=
ENST00000618244.4:c.870A= ENSP00000483416.1:p.Glu290=
ENST00000645635.1:c.870A= ENSP00000493607.1:p.Glu290=
ENST00000695844.1:n.1049A=
ENST00000695845.1:n.1048A=
ENST00000695846.1:n.870A=
XM_005262975.1:c.870A= XP_005263032.1:p.Glu290=
XM_005262976.1:c.870A= XP_005263033.1:p.Glu290=
XM_006714209.1:c.870A= XP_006714272.1:p.Glu290=
XM_006714210.2:c.870A= XP_006714273.1:p.Glu290=
XM_006714210.4:c.870A= XP_006714273.1:p.Glu290=
XM_011531920.1:c.870A= XP_011530222.1:p.Glu290=
XM_011531920.2:c.870A= XP_011530222.1:p.Glu290=
XM_017008164.2:c.870A= XP_016863653.1:p.Glu290=
XM_017008165.2:c.870A= XP_016863654.1:p.Glu290=
XM_017008166.2:c.870A= XP_016863655.1:p.Glu290=