Canonical Allele Identifier: CA2530649961

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737774A>G , CM000666.2:g.109737774A>G	GRCh38
NC_000004.11:g.110658930A>G , CM000666.1:g.110658930A>G	GRCh37
NC_000004.10:g.110878379A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1714-2978T>C
ENST00000695845.1:n.1712+4717T>C
ENST00000645635.1:c.1534+4717T>C	ENSP00000493607.1:n.1534+4717T>C
XM_011531920.1:c.1558+4717T>C	XP_011530222.1:n.1558+4717T>C
XM_011531920.2:c.1558+4717T>C	XP_011530222.1:n.1558+4717T>C
XM_017008164.2:c.1534+4717T>C	XP_016863653.1:n.1534+4717T>C
XM_017008165.2:c.1513+4717T>C	XP_016863654.1:n.1513+4717T>C
XM_017008166.2:c.1535-2974T>C	XP_016863655.1:n.1535-2974T>C
NM_001375278.1:c.1559-2978T>C	NP_001362207.1:n.1559-2978T>C
NM_001375279.1:c.1535-2978T>C	NP_001362208.1:n.1535-2978T>C
NM_001375280.1:c.1514-2978T>C	NP_001362209.1:n.1514-2978T>C
NM_001375281.1:c.1534+4717T>C	NP_001362210.1:n.1534+4717T>C
NM_001375282.1:c.1513+4717T>C	NP_001362211.1:n.1513+4717T>C