Canonical Allele Identifier: CA103685789

Gene: CFI

Linked Data

• dbSNP Id: rs978415996
• MyVariant Identifiers: chr4:g.110659001T>C (hg19) ; chr4:g.109737845T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737845T>C , CM000666.2:g.109737845T>C	GRCh38
NC_000004.11:g.110659001T>C , CM000666.1:g.110659001T>C	GRCh37
NC_000004.10:g.110878450T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000695844.1:n.1714-3049A>G
ENST00000695845.1:n.1712+4646A>G
ENST00000645635.1:c.1534+4646A>G	ENSP00000493607.1:n.1534+4646A>G
XM_011531920.1:c.1558+4646A>G	XP_011530222.1:n.1558+4646A>G
XM_011531920.2:c.1558+4646A>G	XP_011530222.1:n.1558+4646A>G
XM_017008164.2:c.1534+4646A>G	XP_016863653.1:n.1534+4646A>G
XM_017008165.2:c.1513+4646A>G	XP_016863654.1:n.1513+4646A>G
XM_017008166.2:c.1535-3045A>G	XP_016863655.1:n.1535-3045A>G
NM_001375278.1:c.1559-3049A>G	NP_001362207.1:n.1559-3049A>G
NM_001375279.1:c.1535-3049A>G	NP_001362208.1:n.1535-3049A>G
NM_001375280.1:c.1514-3049A>G	NP_001362209.1:n.1514-3049A>G
NM_001375281.1:c.1534+4646A>G	NP_001362210.1:n.1534+4646A>G
NM_001375282.1:c.1513+4646A>G	NP_001362211.1:n.1513+4646A>G