Canonical Allele Identifier: CA1066622423

Gene: CFI

Linked Data

• dbSNP Id: rs1723456029
• gnomAD v3: 4-109737820-T-TAGATTGGCTTCTGTAGTCTGGAATTAGGAGCGCTG
• gnomAD v4: 4-109737820-T-TAGATTGGCTTCTGTAGTCTGGAATTAGGAGCGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737824_109737858dup , CM000666.2:g.109737824_109737858dup	GRCh38
NC_000004.11:g.110658980_110659014dup , CM000666.1:g.110658980_110659014dup	GRCh37
NC_000004.10:g.110878429_110878463dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1714-3059_1714-3025dup
ENST00000695845.1:n.1712+4636_1712+4670dup
ENST00000645635.1:c.1534+4636_1534+4670dup	ENSP00000493607.1:n.1534+4636_1534+4670dup
XM_011531920.1:c.1558+4636_1558+4670dup	XP_011530222.1:n.1558+4636_1558+4670dup
XM_011531920.2:c.1558+4636_1558+4670dup	XP_011530222.1:n.1558+4636_1558+4670dup
XM_017008164.2:c.1534+4636_1534+4670dup	XP_016863653.1:n.1534+4636_1534+4670dup
XM_017008165.2:c.1513+4636_1513+4670dup	XP_016863654.1:n.1513+4636_1513+4670dup
XM_017008166.2:c.1535-3055_1535-3021dup	XP_016863655.1:n.1535-3055_1535-3021dup
NM_001375278.1:c.1559-3059_1559-3025dup	NP_001362207.1:n.1559-3059_1559-3025dup
NM_001375279.1:c.1535-3059_1535-3025dup	NP_001362208.1:n.1535-3059_1535-3025dup
NM_001375280.1:c.1514-3059_1514-3025dup	NP_001362209.1:n.1514-3059_1514-3025dup
NM_001375281.1:c.1534+4636_1534+4670dup	NP_001362210.1:n.1534+4636_1534+4670dup
NM_001375282.1:c.1513+4636_1513+4670dup	NP_001362211.1:n.1513+4636_1513+4670dup