Canonical Allele Identifier: CA1484705076

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741018C= , CM000666.2:g.109741018C=	GRCh38
NC_000004.11:g.110662174C= , CM000666.1:g.110662174C=	GRCh37
NC_000004.10:g.110881623C=	NCBI36
NG_007569.1:g.65968G= , LRG_48:g.65968G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1473G=
ENST00000695845.1:n.1712+1473G=
ENST00000695846.1:n.1651G=
ENST00000394634.7:c.1627G= MANE Select	ENSP00000378130.2:p.Val543=
ENST00000394635.8:c.1651G=	ENSP00000378131.3:p.Val551=
ENST00000645635.1:c.1534+1473G=	ENSP00000493607.1:n.1534+1473G=
ENST00000394634.6:c.1627G=	ENSP00000378130.2:p.Val543=
ENST00000394635.7:c.1651G=	ENSP00000378131.3:p.Val551=
ENST00000504853.3:n.2044G=
ENST00000512148.5:c.1606G=	ENSP00000427438.1:p.Val536=
ENST00000618244.4:c.1045-213G=	ENSP00000483416.1:n.1045-213G=
NM_000204.3:c.1627G= , LRG_48t1:c.1627G=	NP_000195.2:p.Val543=
XM_005262975.1:c.1651G=	XP_005263032.1:p.Val551=
XM_005262976.1:c.1606G=	XP_005263033.1:p.Val536=
XM_006714209.1:c.1648G=	XP_006714272.1:p.Val550=
XM_011531920.1:c.1558+1473G=	XP_011530222.1:n.1558+1473G=
NM_000204.4:c.1627G=	NP_000195.2:p.Val543=
NM_001318057.1:c.1651G=	NP_001304986.1:p.Val551=
NM_001331035.1:c.1606G=	NP_001317964.1:p.Val536=
XM_011531920.2:c.1558+1473G=	XP_011530222.1:n.1558+1473G=
XM_017008164.2:c.1534+1473G=	XP_016863653.1:n.1534+1473G=
XM_017008165.2:c.1513+1473G=	XP_016863654.1:n.1513+1473G=
XM_017008166.2:c.1534+1473G=	XP_016863655.1:n.1534+1473G=
NM_001318057.2:c.1651G=	NP_001304986.2:p.Val551=
NM_001331035.2:c.1606G=	NP_001317964.1:p.Val536=
NM_001375278.1:c.1558+1473G=	NP_001362207.1:n.1558+1473G=
NM_001375279.1:c.1534+1473G=	NP_001362208.1:n.1534+1473G=
NM_001375280.1:c.1513+1473G=	NP_001362209.1:n.1513+1473G=
NM_001375281.1:c.1534+1473G=	NP_001362210.1:n.1534+1473G=
NM_001375282.1:c.1513+1473G=	NP_001362211.1:n.1513+1473G=
NM_001375283.1:c.1570G=	NP_001362212.1:p.Val524=
NM_001375284.1:c.1018G=	NP_001362213.1:p.Val340=
NR_164671.1:n.1374G=
NR_164672.1:n.1677G=
NR_164673.1:n.1651G=
NM_000204.5:c.1627G= MANE Select	NP_000195.3:p.Val543=