Canonical Allele Identifier: CA1484705110

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741044G= , CM000666.2:g.109741044G=	GRCh38
NC_000004.11:g.110662200G= , CM000666.1:g.110662200G=	GRCh37
NC_000004.10:g.110881649G=	NCBI36
NG_007569.1:g.65942C= , LRG_48:g.65942C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1447C=
ENST00000695845.1:n.1712+1447C=
ENST00000695846.1:n.1625C=
ENST00000394634.7:c.1601C= MANE Select	ENSP00000378130.2:p.Ala534=
ENST00000394635.8:c.1625C=	ENSP00000378131.3:p.Ala542=
ENST00000645635.1:c.1534+1447C=	ENSP00000493607.1:n.1534+1447C=
ENST00000394634.6:c.1601C=	ENSP00000378130.2:p.Ala534=
ENST00000394635.7:c.1625C=	ENSP00000378131.3:p.Ala542=
ENST00000504853.3:n.2018C=
ENST00000512148.5:c.1580C=	ENSP00000427438.1:p.Ala527=
ENST00000618244.4:c.1045-239C=	ENSP00000483416.1:n.1045-239C=
NM_000204.3:c.1601C= , LRG_48t1:c.1601C=	NP_000195.2:p.Ala534=
XM_005262975.1:c.1625C=	XP_005263032.1:p.Ala542=
XM_005262976.1:c.1580C=	XP_005263033.1:p.Ala527=
XM_006714209.1:c.1622C=	XP_006714272.1:p.Ala541=
XM_011531920.1:c.1558+1447C=	XP_011530222.1:n.1558+1447C=
NM_000204.4:c.1601C=	NP_000195.2:p.Ala534=
NM_001318057.1:c.1625C=	NP_001304986.1:p.Ala542=
NM_001331035.1:c.1580C=	NP_001317964.1:p.Ala527=
XM_011531920.2:c.1558+1447C=	XP_011530222.1:n.1558+1447C=
XM_017008164.2:c.1534+1447C=	XP_016863653.1:n.1534+1447C=
XM_017008165.2:c.1513+1447C=	XP_016863654.1:n.1513+1447C=
XM_017008166.2:c.1534+1447C=	XP_016863655.1:n.1534+1447C=
NM_001318057.2:c.1625C=	NP_001304986.2:p.Ala542=
NM_001331035.2:c.1580C=	NP_001317964.1:p.Ala527=
NM_001375278.1:c.1558+1447C=	NP_001362207.1:n.1558+1447C=
NM_001375279.1:c.1534+1447C=	NP_001362208.1:n.1534+1447C=
NM_001375280.1:c.1513+1447C=	NP_001362209.1:n.1513+1447C=
NM_001375281.1:c.1534+1447C=	NP_001362210.1:n.1534+1447C=
NM_001375282.1:c.1513+1447C=	NP_001362211.1:n.1513+1447C=
NM_001375283.1:c.1544C=	NP_001362212.1:p.Ala515=
NM_001375284.1:c.992C=	NP_001362213.1:p.Ala331=
NR_164671.1:n.1348C=
NR_164672.1:n.1651C=
NR_164673.1:n.1625C=
NM_000204.5:c.1601C= MANE Select	NP_000195.3:p.Ala534=