Canonical Allele Identifier: CA357854549

Gene: CFI

Linked Data

• ClinVar Variation Id: 2203556
• ClinVar RCV Id: RCV002651836
• dbSNP Id: rs1268486835
• MyVariant Identifiers: chr4:g.110662179C>T (hg19) ; chr4:g.109741023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741023C>T , CM000666.2:g.109741023C>T	GRCh38
NC_000004.11:g.110662179C>T , CM000666.1:g.110662179C>T	GRCh37
NC_000004.10:g.110881628C>T	NCBI36
NG_007569.1:g.65963G>A , LRG_48:g.65963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1468G>A
ENST00000695845.1:n.1712+1468G>A
ENST00000695846.1:n.1646G>A
ENST00000394634.7:c.1622G>A MANE Select	ENSP00000378130.2:p.Trp541Ter
ENST00000394635.8:c.1646G>A	ENSP00000378131.3:p.Trp549Ter
ENST00000645635.1:c.1534+1468G>A	ENSP00000493607.1:n.1534+1468G>A
ENST00000394634.6:c.1622G>A	ENSP00000378130.2:p.Trp541Ter
ENST00000394635.7:c.1646G>A	ENSP00000378131.3:p.Trp549Ter
ENST00000504853.3:n.2039G>A
ENST00000512148.5:c.1601G>A	ENSP00000427438.1:p.Trp534Ter
ENST00000618244.4:c.1045-218G>A	ENSP00000483416.1:n.1045-218G>A
NM_000204.3:c.1622G>A , LRG_48t1:c.1622G>A	NP_000195.2:p.Trp541Ter
XM_005262975.1:c.1646G>A	XP_005263032.1:p.Trp549Ter
XM_005262976.1:c.1601G>A	XP_005263033.1:p.Trp534Ter
XM_006714209.1:c.1643G>A	XP_006714272.1:p.Trp548Ter
XM_011531920.1:c.1558+1468G>A	XP_011530222.1:n.1558+1468G>A
NM_000204.4:c.1622G>A	NP_000195.2:p.Trp541Ter
NM_001318057.1:c.1646G>A	NP_001304986.1:p.Trp549Ter
NM_001331035.1:c.1601G>A	NP_001317964.1:p.Trp534Ter
XM_011531920.2:c.1558+1468G>A	XP_011530222.1:n.1558+1468G>A
XM_017008164.2:c.1534+1468G>A	XP_016863653.1:n.1534+1468G>A
XM_017008165.2:c.1513+1468G>A	XP_016863654.1:n.1513+1468G>A
XM_017008166.2:c.1534+1468G>A	XP_016863655.1:n.1534+1468G>A
NM_001318057.2:c.1646G>A	NP_001304986.2:p.Trp549Ter
NM_001331035.2:c.1601G>A	NP_001317964.1:p.Trp534Ter
NM_001375278.1:c.1558+1468G>A	NP_001362207.1:n.1558+1468G>A
NM_001375279.1:c.1534+1468G>A	NP_001362208.1:n.1534+1468G>A
NM_001375280.1:c.1513+1468G>A	NP_001362209.1:n.1513+1468G>A
NM_001375281.1:c.1534+1468G>A	NP_001362210.1:n.1534+1468G>A
NM_001375282.1:c.1513+1468G>A	NP_001362211.1:n.1513+1468G>A
NM_001375283.1:c.1565G>A	NP_001362212.1:p.Trp522Ter
NM_001375284.1:c.1013G>A	NP_001362213.1:p.Trp338Ter
NR_164671.1:n.1369G>A
NR_164672.1:n.1672G>A
NR_164673.1:n.1646G>A
NM_000204.5:c.1622G>A MANE Select	NP_000195.3:p.Trp541Ter