Canonical Allele Identifier: CA1484704560
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109740623G= , CM000666.2:g.109740623G= GRCh38
NC_000004.11:g.110661779G= , CM000666.1:g.110661779G= GRCh37
NC_000004.10:g.110881228G= NCBI36
NG_007569.1:g.66363C= , LRG_48:g.66363C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1868C=
ENST00000695845.1:n.1712+1868C=
ENST00000645635.1:c.1534+1868C= ENSP00000493607.1:n.1534+1868C=
XM_011531920.1:c.1558+1868C= XP_011530222.1:n.1558+1868C=
XM_011531920.2:c.1558+1868C= XP_011530222.1:n.1558+1868C=
XM_017008164.2:c.1534+1868C= XP_016863653.1:n.1534+1868C=
XM_017008165.2:c.1513+1868C= XP_016863654.1:n.1513+1868C=
XM_017008166.2:c.1534+1868C= XP_016863655.1:n.1534+1868C=
NM_001375278.1:c.1558+1868C= NP_001362207.1:n.1558+1868C=
NM_001375279.1:c.1534+1868C= NP_001362208.1:n.1534+1868C=
NM_001375280.1:c.1513+1868C= NP_001362209.1:n.1513+1868C=
NM_001375281.1:c.1534+1868C= NP_001362210.1:n.1534+1868C=
NM_001375282.1:c.1513+1868C= NP_001362211.1:n.1513+1868C=