Canonical Allele Identifier: CA2580576259

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737911T>G , CM000666.2:g.109737911T>G	GRCh38
NC_000004.11:g.110659067T>G , CM000666.1:g.110659067T>G	GRCh37
NC_000004.10:g.110878516T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1714-3115A>C
ENST00000695845.1:n.1712+4580A>C
ENST00000645635.1:c.1534+4580A>C	ENSP00000493607.1:n.1534+4580A>C
XM_011531920.1:c.1558+4580A>C	XP_011530222.1:n.1558+4580A>C
XM_011531920.2:c.1558+4580A>C	XP_011530222.1:n.1558+4580A>C
XM_017008164.2:c.1534+4580A>C	XP_016863653.1:n.1534+4580A>C
XM_017008165.2:c.1513+4580A>C	XP_016863654.1:n.1513+4580A>C
XM_017008166.2:c.1535-3111A>C	XP_016863655.1:n.1535-3111A>C
NM_001375278.1:c.1559-3115A>C	NP_001362207.1:n.1559-3115A>C
NM_001375279.1:c.1535-3115A>C	NP_001362208.1:n.1535-3115A>C
NM_001375280.1:c.1514-3115A>C	NP_001362209.1:n.1514-3115A>C
NM_001375281.1:c.1534+4580A>C	NP_001362210.1:n.1534+4580A>C
NM_001375282.1:c.1513+4580A>C	NP_001362211.1:n.1513+4580A>C