Canonical Allele Identifier: CA357854595

Gene: CFI

Linked Data

• ClinVar Variation Id: 2119609
• ClinVar RCV Id: RCV003033178
• dbSNP Id: rs1228464893
• gnomAD v3: 4-109741044-G-A
• gnomAD v4: 4-109741044-G-A
• COSMIC: COSM4671858
• MyVariant Identifiers: chr4:g.110662200G>A (hg19) ; chr4:g.109741044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741044G>A , CM000666.2:g.109741044G>A	GRCh38
NC_000004.11:g.110662200G>A , CM000666.1:g.110662200G>A	GRCh37
NC_000004.10:g.110881649G>A	NCBI36
NG_007569.1:g.65942C>T , LRG_48:g.65942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1447C>T
ENST00000695845.1:n.1712+1447C>T
ENST00000695846.1:n.1625C>T
ENST00000394634.7:c.1601C>T MANE Select	ENSP00000378130.2:p.Ala534Val
ENST00000394635.8:c.1625C>T	ENSP00000378131.3:p.Ala542Val
ENST00000645635.1:c.1534+1447C>T	ENSP00000493607.1:n.1534+1447C>T
ENST00000394634.6:c.1601C>T	ENSP00000378130.2:p.Ala534Val
ENST00000394635.7:c.1625C>T	ENSP00000378131.3:p.Ala542Val
ENST00000504853.3:n.2018C>T
ENST00000512148.5:c.1580C>T	ENSP00000427438.1:p.Ala527Val
ENST00000618244.4:c.1045-239C>T	ENSP00000483416.1:n.1045-239C>T
NM_000204.3:c.1601C>T , LRG_48t1:c.1601C>T	NP_000195.2:p.Ala534Val
XM_005262975.1:c.1625C>T	XP_005263032.1:p.Ala542Val
XM_005262976.1:c.1580C>T	XP_005263033.1:p.Ala527Val
XM_006714209.1:c.1622C>T	XP_006714272.1:p.Ala541Val
XM_011531920.1:c.1558+1447C>T	XP_011530222.1:n.1558+1447C>T
NM_000204.4:c.1601C>T	NP_000195.2:p.Ala534Val
NM_001318057.1:c.1625C>T	NP_001304986.1:p.Ala542Val
NM_001331035.1:c.1580C>T	NP_001317964.1:p.Ala527Val
XM_011531920.2:c.1558+1447C>T	XP_011530222.1:n.1558+1447C>T
XM_017008164.2:c.1534+1447C>T	XP_016863653.1:n.1534+1447C>T
XM_017008165.2:c.1513+1447C>T	XP_016863654.1:n.1513+1447C>T
XM_017008166.2:c.1534+1447C>T	XP_016863655.1:n.1534+1447C>T
NM_001318057.2:c.1625C>T	NP_001304986.2:p.Ala542Val
NM_001331035.2:c.1580C>T	NP_001317964.1:p.Ala527Val
NM_001375278.1:c.1558+1447C>T	NP_001362207.1:n.1558+1447C>T
NM_001375279.1:c.1534+1447C>T	NP_001362208.1:n.1534+1447C>T
NM_001375280.1:c.1513+1447C>T	NP_001362209.1:n.1513+1447C>T
NM_001375281.1:c.1534+1447C>T	NP_001362210.1:n.1534+1447C>T
NM_001375282.1:c.1513+1447C>T	NP_001362211.1:n.1513+1447C>T
NM_001375283.1:c.1544C>T	NP_001362212.1:p.Ala515Val
NM_001375284.1:c.992C>T	NP_001362213.1:p.Ala331Val
NR_164671.1:n.1348C>T
NR_164672.1:n.1651C>T
NR_164673.1:n.1625C>T
NM_000204.5:c.1601C>T MANE Select	NP_000195.3:p.Ala534Val