Canonical Allele Identifier: CA1484711569

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109757772C= , CM000666.2:g.109757772C=	GRCh38
NC_000004.11:g.110678928C= , CM000666.1:g.110678928C=	GRCh37
NC_000004.10:g.110898377C=	NCBI36
NG_007569.1:g.49214G= , LRG_48:g.49214G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1074G=
ENST00000695845.1:n.1073G=
ENST00000695846.1:n.919G=
ENST00000394634.7:c.895G= MANE Select	ENSP00000378130.2:p.Val299=
ENST00000394635.8:c.919G=	ENSP00000378131.3:p.Val307=
ENST00000645635.1:c.895G=	ENSP00000493607.1:p.Val299=
ENST00000394634.6:c.895G=	ENSP00000378130.2:p.Val299=
ENST00000394635.7:c.919G=	ENSP00000378131.3:p.Val307=
ENST00000504853.3:n.1312G=
ENST00000512148.5:c.883+2498G=	ENSP00000427438.1:n.883+2498G=
ENST00000618244.4:c.895G=	ENSP00000483416.1:p.Val299=
NM_000204.3:c.895G= , LRG_48t1:c.895G=	NP_000195.2:p.Val299=
XM_005262975.1:c.919G=	XP_005263032.1:p.Val307=
XM_005262976.1:c.883+2498G=	XP_005263033.1:n.883+2498G=
XM_006714209.1:c.916G=	XP_006714272.1:p.Val306=
XM_006714210.2:c.919G=	XP_006714273.1:p.Val307=
XM_011531920.1:c.919G=	XP_011530222.1:p.Val307=
NM_000204.4:c.895G=	NP_000195.2:p.Val299=
NM_001318057.1:c.919G=	NP_001304986.1:p.Val307=
NM_001331035.1:c.883+2498G=	NP_001317964.1:n.883+2498G=
XM_006714210.4:c.919G=	XP_006714273.1:p.Val307=
XM_011531920.2:c.919G=	XP_011530222.1:p.Val307=
XM_017008164.2:c.895G=	XP_016863653.1:p.Val299=
XM_017008165.2:c.883+2498G=	XP_016863654.1:n.883+2498G=
XM_017008166.2:c.895G=	XP_016863655.1:p.Val299=
NM_001318057.2:c.919G=	NP_001304986.2:p.Val307=
NM_001331035.2:c.883+2498G=	NP_001317964.1:n.883+2498G=
NM_001375278.1:c.919G=	NP_001362207.1:p.Val307=
NM_001375279.1:c.895G=	NP_001362208.1:p.Val299=
NM_001375280.1:c.883+2498G=	NP_001362209.1:n.883+2498G=
NM_001375281.1:c.895G=	NP_001362210.1:p.Val299=
NM_001375282.1:c.883+2498G=	NP_001362211.1:n.883+2498G=
NM_001375283.1:c.883+2498G=	NP_001362212.1:n.883+2498G=
NM_001375284.1:c.286G=	NP_001362213.1:p.Val96=
NR_164671.1:n.923G=
NR_164672.1:n.947G=
NR_164673.1:n.923G=
NM_000204.5:c.895G= MANE Select	NP_000195.3:p.Val299=