Canonical Allele Identifier: CA3041861

Gene: CFI

Linked Data

• ClinVar Variation Id: 1592913
• ClinVar RCV Id: RCV002111946 ; RCV004045874
• dbSNP Id: rs145296508
• ExAC: 4:110662253 A / G
• gnomAD v2: 4-110662253-A-G
• gnomAD v3: 4-109741097-A-G
• gnomAD v4: 4-109741097-A-G
• MyVariant Identifiers: chr4:g.110662253A>G (hg19) ; chr4:g.109741097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741097A>G , CM000666.2:g.109741097A>G	GRCh38
NC_000004.11:g.110662253A>G , CM000666.1:g.110662253A>G	GRCh37
NC_000004.10:g.110881702A>G	NCBI36
NG_007569.1:g.65889T>C , LRG_48:g.65889T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1394T>C
ENST00000695845.1:n.1712+1394T>C
ENST00000695846.1:n.1572T>C
ENST00000394634.7:c.1548T>C MANE Select	ENSP00000378130.2:p.Gly516=
ENST00000394635.8:c.1572T>C	ENSP00000378131.3:p.Gly524=
ENST00000645635.1:c.1534+1394T>C	ENSP00000493607.1:n.1534+1394T>C
ENST00000394634.6:c.1548T>C	ENSP00000378130.2:p.Gly516=
ENST00000394635.7:c.1572T>C	ENSP00000378131.3:p.Gly524=
ENST00000504853.3:n.1965T>C
ENST00000512148.5:c.1527T>C	ENSP00000427438.1:p.Gly509=
ENST00000618244.4:c.1045-292T>C	ENSP00000483416.1:n.1045-292T>C
NM_000204.3:c.1548T>C , LRG_48t1:c.1548T>C	NP_000195.2:p.Gly516=
XM_005262975.1:c.1572T>C	XP_005263032.1:p.Gly524=
XM_005262976.1:c.1527T>C	XP_005263033.1:p.Gly509=
XM_006714209.1:c.1569T>C	XP_006714272.1:p.Gly523=
XM_011531920.1:c.1558+1394T>C	XP_011530222.1:n.1558+1394T>C
NM_000204.4:c.1548T>C	NP_000195.2:p.Gly516=
NM_001318057.1:c.1572T>C	NP_001304986.1:p.Gly524=
NM_001331035.1:c.1527T>C	NP_001317964.1:p.Gly509=
XM_011531920.2:c.1558+1394T>C	XP_011530222.1:n.1558+1394T>C
XM_017008164.2:c.1534+1394T>C	XP_016863653.1:n.1534+1394T>C
XM_017008165.2:c.1513+1394T>C	XP_016863654.1:n.1513+1394T>C
XM_017008166.2:c.1534+1394T>C	XP_016863655.1:n.1534+1394T>C
NM_001318057.2:c.1572T>C	NP_001304986.2:p.Gly524=
NM_001331035.2:c.1527T>C	NP_001317964.1:p.Gly509=
NM_001375278.1:c.1558+1394T>C	NP_001362207.1:n.1558+1394T>C
NM_001375279.1:c.1534+1394T>C	NP_001362208.1:n.1534+1394T>C
NM_001375280.1:c.1513+1394T>C	NP_001362209.1:n.1513+1394T>C
NM_001375281.1:c.1534+1394T>C	NP_001362210.1:n.1534+1394T>C
NM_001375282.1:c.1513+1394T>C	NP_001362211.1:n.1513+1394T>C
NM_001375283.1:c.1491T>C	NP_001362212.1:p.Gly497=
NM_001375284.1:c.939T>C	NP_001362213.1:p.Gly313=
NR_164671.1:n.1295T>C
NR_164672.1:n.1598T>C
NR_164673.1:n.1572T>C
NM_000204.5:c.1548T>C MANE Select	NP_000195.3:p.Gly516=