Canonical Allele Identifier: CA1484711555

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109757763C= , CM000666.2:g.109757763C=	GRCh38
NC_000004.11:g.110678919C= , CM000666.1:g.110678919C=	GRCh37
NC_000004.10:g.110898368C=	NCBI36
NG_007569.1:g.49223G= , LRG_48:g.49223G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1083G=
ENST00000695845.1:n.1082G=
ENST00000695846.1:n.928G=
ENST00000394634.7:c.904G= MANE Select	ENSP00000378130.2:p.Glu302=
ENST00000394635.8:c.928G=	ENSP00000378131.3:p.Glu310=
ENST00000645635.1:c.904G=	ENSP00000493607.1:p.Glu302=
ENST00000394634.6:c.904G=	ENSP00000378130.2:p.Glu302=
ENST00000394635.7:c.928G=	ENSP00000378131.3:p.Glu310=
ENST00000504853.3:n.1321G=
ENST00000512148.5:c.883+2507G=	ENSP00000427438.1:n.883+2507G=
ENST00000618244.4:c.904G=	ENSP00000483416.1:p.Glu302=
NM_000204.3:c.904G= , LRG_48t1:c.904G=	NP_000195.2:p.Glu302=
XM_005262975.1:c.928G=	XP_005263032.1:p.Glu310=
XM_005262976.1:c.883+2507G=	XP_005263033.1:n.883+2507G=
XM_006714209.1:c.925G=	XP_006714272.1:p.Glu309=
XM_006714210.2:c.928G=	XP_006714273.1:p.Glu310=
XM_011531920.1:c.928G=	XP_011530222.1:p.Glu310=
NM_000204.4:c.904G=	NP_000195.2:p.Glu302=
NM_001318057.1:c.928G=	NP_001304986.1:p.Glu310=
NM_001331035.1:c.883+2507G=	NP_001317964.1:n.883+2507G=
XM_006714210.4:c.928G=	XP_006714273.1:p.Glu310=
XM_011531920.2:c.928G=	XP_011530222.1:p.Glu310=
XM_017008164.2:c.904G=	XP_016863653.1:p.Glu302=
XM_017008165.2:c.883+2507G=	XP_016863654.1:n.883+2507G=
XM_017008166.2:c.904G=	XP_016863655.1:p.Glu302=
NM_001318057.2:c.928G=	NP_001304986.2:p.Glu310=
NM_001331035.2:c.883+2507G=	NP_001317964.1:n.883+2507G=
NM_001375278.1:c.928G=	NP_001362207.1:p.Glu310=
NM_001375279.1:c.904G=	NP_001362208.1:p.Glu302=
NM_001375280.1:c.883+2507G=	NP_001362209.1:n.883+2507G=
NM_001375281.1:c.904G=	NP_001362210.1:p.Glu302=
NM_001375282.1:c.883+2507G=	NP_001362211.1:n.883+2507G=
NM_001375283.1:c.883+2507G=	NP_001362212.1:n.883+2507G=
NM_001375284.1:c.295G=	NP_001362213.1:p.Glu99=
NR_164671.1:n.932G=
NR_164672.1:n.956G=
NR_164673.1:n.932G=
NM_000204.5:c.904G= MANE Select	NP_000195.3:p.Glu302=