Canonical Allele Identifier: CA554050600

Gene: CFI

Linked Data

• dbSNP Id: rs1343861771
• gnomAD v2: 4-110662303-C-CT
• gnomAD v4: 4-109741147-C-CT
• MyVariant Identifiers: chr4:g.110662303_110662304insT (hg19) ; chr4:g.109741147_109741148insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741147_109741148insT , CM000666.2:g.109741147_109741148insT	GRCh38
NC_000004.11:g.110662303_110662304insT , CM000666.1:g.110662303_110662304insT	GRCh37
NC_000004.10:g.110881752_110881753insT	NCBI36
NG_007569.1:g.65838_65839insA , LRG_48:g.65838_65839insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1343_1713+1344insA
ENST00000695845.1:n.1712+1343_1712+1344insA
ENST00000695846.1:n.1559-38_1559-37insA
ENST00000394634.7:c.1535-38_1535-37insA MANE Select	ENSP00000378130.2:n.1535-38_1535-37insA
ENST00000394635.8:c.1559-38_1559-37insA	ENSP00000378131.3:n.1559-38_1559-37insA
ENST00000645635.1:c.1534+1343_1534+1344insA	ENSP00000493607.1:n.1534+1343_1534+1344insA
ENST00000394634.6:c.1535-38_1535-37insA	ENSP00000378130.2:n.1535-38_1535-37insA
ENST00000394635.7:c.1559-38_1559-37insA	ENSP00000378131.3:n.1559-38_1559-37insA
ENST00000504853.3:n.1952-38_1952-37insA
ENST00000512148.5:c.1514-38_1514-37insA	ENSP00000427438.1:n.1514-38_1514-37insA
ENST00000618244.4:c.1045-343_1045-342insA	ENSP00000483416.1:n.1045-343_1045-342insA
NM_000204.3:c.1535-38_1535-37insA , LRG_48t1:c.1535-38_1535-37insA	NP_000195.2:n.1535-38_1535-37insA
XM_005262975.1:c.1559-38_1559-37insA	XP_005263032.1:n.1559-38_1559-37insA
XM_005262976.1:c.1514-38_1514-37insA	XP_005263033.1:n.1514-38_1514-37insA
XM_006714209.1:c.1556-38_1556-37insA	XP_006714272.1:n.1556-38_1556-37insA
XM_011531920.1:c.1558+1343_1558+1344insA	XP_011530222.1:n.1558+1343_1558+1344insA
NM_000204.4:c.1535-38_1535-37insA	NP_000195.2:n.1535-38_1535-37insA
NM_001318057.1:c.1559-38_1559-37insA	NP_001304986.1:n.1559-38_1559-37insA
NM_001331035.1:c.1514-38_1514-37insA	NP_001317964.1:n.1514-38_1514-37insA
XM_011531920.2:c.1558+1343_1558+1344insA	XP_011530222.1:n.1558+1343_1558+1344insA
XM_017008164.2:c.1534+1343_1534+1344insA	XP_016863653.1:n.1534+1343_1534+1344insA
XM_017008165.2:c.1513+1343_1513+1344insA	XP_016863654.1:n.1513+1343_1513+1344insA
XM_017008166.2:c.1534+1343_1534+1344insA	XP_016863655.1:n.1534+1343_1534+1344insA
NM_001318057.2:c.1559-38_1559-37insA	NP_001304986.2:n.1559-38_1559-37insA
NM_001331035.2:c.1514-38_1514-37insA	NP_001317964.1:n.1514-38_1514-37insA
NM_001375278.1:c.1558+1343_1558+1344insA	NP_001362207.1:n.1558+1343_1558+1344insA
NM_001375279.1:c.1534+1343_1534+1344insA	NP_001362208.1:n.1534+1343_1534+1344insA
NM_001375280.1:c.1513+1343_1513+1344insA	NP_001362209.1:n.1513+1343_1513+1344insA
NM_001375281.1:c.1534+1343_1534+1344insA	NP_001362210.1:n.1534+1343_1534+1344insA
NM_001375282.1:c.1513+1343_1513+1344insA	NP_001362211.1:n.1513+1343_1513+1344insA
NM_001375283.1:c.1478-38_1478-37insA	NP_001362212.1:n.1478-38_1478-37insA
NM_001375284.1:c.926-38_926-37insA	NP_001362213.1:n.926-38_926-37insA
NR_164671.1:n.1282-38_1282-37insA
NR_164672.1:n.1585-38_1585-37insA
NR_164673.1:n.1559-38_1559-37insA
NM_000204.5:c.1535-38_1535-37insA MANE Select	NP_000195.3:n.1535-38_1535-37insA