Canonical Allele Identifier: CA1484711566

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109757769T= , CM000666.2:g.109757769T=	GRCh38
NC_000004.11:g.110678925T= , CM000666.1:g.110678925T=	GRCh37
NC_000004.10:g.110898374T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1077A=
ENST00000695845.1:n.1076A=
ENST00000695846.1:n.922A=
ENST00000394634.7:c.898A= MANE Select	ENSP00000378130.2:p.Thr300=
ENST00000394635.8:c.922A=	ENSP00000378131.3:p.Thr308=
ENST00000645635.1:c.898A=	ENSP00000493607.1:p.Thr300=
ENST00000394634.6:c.898A=	ENSP00000378130.2:p.Thr300=
ENST00000394635.7:c.922A=	ENSP00000378131.3:p.Thr308=
ENST00000504853.3:n.1315A=
ENST00000512148.5:c.883+2501A=	ENSP00000427438.1:n.883+2501A=
ENST00000618244.4:c.898A=	ENSP00000483416.1:p.Thr300=
XM_005262975.1:c.922A=	XP_005263032.1:p.Thr308=
XM_005262976.1:c.883+2501A=	XP_005263033.1:n.883+2501A=
XM_006714209.1:c.919A=	XP_006714272.1:p.Thr307=
XM_006714210.2:c.922A=	XP_006714273.1:p.Thr308=
XM_011531920.1:c.922A=	XP_011530222.1:p.Thr308=
NM_001331035.1:c.883+2501A=	NP_001317964.1:n.883+2501A=
XM_006714210.4:c.922A=	XP_006714273.1:p.Thr308=
XM_011531920.2:c.922A=	XP_011530222.1:p.Thr308=
XM_017008164.2:c.898A=	XP_016863653.1:p.Thr300=
XM_017008165.2:c.883+2501A=	XP_016863654.1:n.883+2501A=
XM_017008166.2:c.898A=	XP_016863655.1:p.Thr300=
NM_001318057.2:c.922A=	NP_001304986.2:p.Thr308=
NM_001331035.2:c.883+2501A=	NP_001317964.1:n.883+2501A=
NM_001375278.1:c.922A=	NP_001362207.1:p.Thr308=
NM_001375279.1:c.898A=	NP_001362208.1:p.Thr300=
NM_001375280.1:c.883+2501A=	NP_001362209.1:n.883+2501A=
NM_001375281.1:c.898A=	NP_001362210.1:p.Thr300=
NM_001375282.1:c.883+2501A=	NP_001362211.1:n.883+2501A=
NM_001375283.1:c.883+2501A=	NP_001362212.1:n.883+2501A=
NM_001375284.1:c.289A=	NP_001362213.1:p.Thr97=
NR_164671.1:n.926A=
NR_164672.1:n.950A=
NR_164673.1:n.926A=
NM_000204.5:c.898A= MANE Select	NP_000195.3:p.Thr300=