Canonical Allele Identifier: CA553654808

Gene: CFI

Linked Data

• dbSNP Id: rs1358761411
• gnomAD v2: 4-110658867-G-GTCTGTGAGCGTTATT
• gnomAD v3: 4-109737711-G-GTCTGTGAGCGTTATT
• gnomAD v4: 4-109737711-G-GTCTGTGAGCGTTATT
• MyVariant Identifiers: chr4:g.110658867_110658868insTCTGTGAGCGTTATT (hg19) ; chr4:g.109737711_109737712insTCTGTGAGCGTTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737714_109737728dup , CM000666.2:g.109737714_109737728dup	GRCh38
NC_000004.11:g.110658870_110658884dup , CM000666.1:g.110658870_110658884dup	GRCh37
NC_000004.10:g.110878319_110878333dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1714-2930_1714-2916dup
ENST00000695845.1:n.1712+4765_1712+4779dup
ENST00000645635.1:c.1534+4765_1534+4779dup	ENSP00000493607.1:n.1534+4765_1534+4779dup
XM_011531920.1:c.1558+4765_1558+4779dup	XP_011530222.1:n.1558+4765_1558+4779dup
XM_011531920.2:c.1558+4765_1558+4779dup	XP_011530222.1:n.1558+4765_1558+4779dup
XM_017008164.2:c.1534+4765_1534+4779dup	XP_016863653.1:n.1534+4765_1534+4779dup
XM_017008165.2:c.1513+4765_1513+4779dup	XP_016863654.1:n.1513+4765_1513+4779dup
XM_017008166.2:c.1535-2926_1535-2912dup	XP_016863655.1:n.1535-2926_1535-2912dup
NM_001375278.1:c.1559-2930_1559-2916dup	NP_001362207.1:n.1559-2930_1559-2916dup
NM_001375279.1:c.1535-2930_1535-2916dup	NP_001362208.1:n.1535-2930_1535-2916dup
NM_001375280.1:c.1514-2930_1514-2916dup	NP_001362209.1:n.1514-2930_1514-2916dup
NM_001375281.1:c.1534+4765_1534+4779dup	NP_001362210.1:n.1534+4765_1534+4779dup
NM_001375282.1:c.1513+4765_1513+4779dup	NP_001362211.1:n.1513+4765_1513+4779dup