Canonical Allele Identifier: CA3041879

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109742492T>C , CM000666.2:g.109742492T>C	GRCh38
NC_000004.11:g.110663648T>C , CM000666.1:g.110663648T>C	GRCh37
NC_000004.10:g.110883097T>C	NCBI36
NG_007569.1:g.64494A>G , LRG_48:g.64494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1712A>G
ENST00000695845.1:n.1711A>G
ENST00000695846.1:n.1557A>G
ENST00000394634.7:c.1533A>G MANE Select	ENSP00000378130.2:p.Ala511=
ENST00000394635.8:c.1557A>G	ENSP00000378131.3:p.Ala519=
ENST00000645635.1:c.1533A>G	ENSP00000493607.1:p.Ala511=
ENST00000394634.6:c.1533A>G	ENSP00000378130.2:p.Ala511=
ENST00000394635.7:c.1557A>G	ENSP00000378131.3:p.Ala519=
ENST00000504853.3:n.1950A>G
ENST00000512148.5:c.1512A>G	ENSP00000427438.1:p.Ala504=
ENST00000515512.1:n.175A>G
ENST00000618244.4:c.1045-1687A>G	ENSP00000483416.1:n.1045-1687A>G
NM_000204.3:c.1533A>G , LRG_48t1:c.1533A>G	NP_000195.2:p.Ala511=
XM_005262975.1:c.1557A>G	XP_005263032.1:p.Ala519=
XM_005262976.1:c.1512A>G	XP_005263033.1:p.Ala504=
XM_006714209.1:c.1554A>G	XP_006714272.1:p.Ala518=
XM_006714210.2:c.1557A>G	XP_006714273.1:p.Ala519=
XM_011531920.1:c.1557A>G	XP_011530222.1:p.Ala519=
NM_000204.4:c.1533A>G	NP_000195.2:p.Ala511=
NM_001318057.1:c.1557A>G	NP_001304986.1:p.Ala519=
NM_001331035.1:c.1512A>G	NP_001317964.1:p.Ala504=
XM_006714210.4:c.1557A>G	XP_006714273.1:p.Ala519=
XM_011531920.2:c.1557A>G	XP_011530222.1:p.Ala519=
XM_017008164.2:c.1533A>G	XP_016863653.1:p.Ala511=
XM_017008165.2:c.1512A>G	XP_016863654.1:p.Ala504=
XM_017008166.2:c.1533A>G	XP_016863655.1:p.Ala511=
NM_001318057.2:c.1557A>G	NP_001304986.2:p.Ala519=
NM_001331035.2:c.1512A>G	NP_001317964.1:p.Ala504=
NM_001375278.1:c.1557A>G	NP_001362207.1:p.Ala519=
NM_001375279.1:c.1533A>G	NP_001362208.1:p.Ala511=
NM_001375280.1:c.1512A>G	NP_001362209.1:p.Ala504=
NM_001375281.1:c.1533A>G	NP_001362210.1:p.Ala511=
NM_001375282.1:c.1512A>G	NP_001362211.1:p.Ala504=
NM_001375283.1:c.1476A>G	NP_001362212.1:p.Ala492=
NM_001375284.1:c.924A>G	NP_001362213.1:p.Ala308=
NR_164671.1:n.1280A>G
NR_164672.1:n.1583A>G
NR_164673.1:n.1557A>G
NM_000204.5:c.1533A>G MANE Select	NP_000195.3:p.Ala511=