Canonical Allele Identifier: CA1484704907

Gene: CFI

Linked Data

• ClinVar Variation Id: 1906345
• ClinVar RCV Id: RCV002586848
• dbSNP Id: rs1723706858
• gnomAD v4: 4-109740925-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740926dup , CM000666.2:g.109740926dup	GRCh38
NC_000004.11:g.110662082dup , CM000666.1:g.110662082dup	GRCh37
NC_000004.10:g.110881531dup	NCBI36
NG_007569.1:g.66060dup , LRG_48:g.66060dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1565dup
ENST00000695845.1:n.1712+1565dup
ENST00000695846.1:n.1743dup
ENST00000394634.7:c.1719dup MANE Select	ENSP00000378130.2:p.Gly574ArgfsTer14
ENST00000394635.8:c.1743dup	ENSP00000378131.3:p.Gly582ArgfsTer14
ENST00000645635.1:c.1534+1565dup	ENSP00000493607.1:n.1534+1565dup
ENST00000394634.6:c.1719dup	ENSP00000378130.2:p.Gly574ArgfsTer14
ENST00000394635.7:c.1743dup	ENSP00000378131.3:p.Gly582ArgfsTer14
ENST00000504853.3:n.2136dup
ENST00000512148.5:c.1698dup	ENSP00000427438.1:p.Gly567ArgfsTer14
ENST00000618244.4:c.1045-121dup	ENSP00000483416.1:n.1045-121dup
NM_000204.3:c.1719dup , LRG_48t1:c.1719dup	NP_000195.2:p.Gly574ArgfsTer14
XM_005262975.1:c.1743dup	XP_005263032.1:p.Gly582ArgfsTer14
XM_005262976.1:c.1698dup	XP_005263033.1:p.Gly567ArgfsTer14
XM_006714209.1:c.1740dup	XP_006714272.1:p.Gly581ArgfsTer14
XM_011531920.1:c.1558+1565dup	XP_011530222.1:n.1558+1565dup
NM_000204.4:c.1719dup	NP_000195.2:p.Gly574ArgfsTer14
NM_001318057.1:c.1743dup	NP_001304986.1:p.Gly582ArgfsTer14
NM_001331035.1:c.1698dup	NP_001317964.1:p.Gly567ArgfsTer14
XM_011531920.2:c.1558+1565dup	XP_011530222.1:n.1558+1565dup
XM_017008164.2:c.1534+1565dup	XP_016863653.1:n.1534+1565dup
XM_017008165.2:c.1513+1565dup	XP_016863654.1:n.1513+1565dup
XM_017008166.2:c.1534+1565dup	XP_016863655.1:n.1534+1565dup
NM_001318057.2:c.1743dup	NP_001304986.2:p.Gly582ArgfsTer14
NM_001331035.2:c.1698dup	NP_001317964.1:p.Gly567ArgfsTer14
NM_001375278.1:c.1558+1565dup	NP_001362207.1:n.1558+1565dup
NM_001375279.1:c.1534+1565dup	NP_001362208.1:n.1534+1565dup
NM_001375280.1:c.1513+1565dup	NP_001362209.1:n.1513+1565dup
NM_001375281.1:c.1534+1565dup	NP_001362210.1:n.1534+1565dup
NM_001375282.1:c.1513+1565dup	NP_001362211.1:n.1513+1565dup
NM_001375283.1:c.1662dup	NP_001362212.1:p.Gly555ArgfsTer14
NM_001375284.1:c.1110dup	NP_001362213.1:p.Gly371ArgfsTer14
NR_164671.1:n.1466dup
NR_164672.1:n.1769dup
NR_164673.1:n.1743dup
NM_000204.5:c.1719dup MANE Select	NP_000195.3:p.Gly574ArgfsTer14