Canonical Allele Identifier: CA1066622406

Gene: CFI

Linked Data

• dbSNP Id: rs1723451775
• gnomAD v3: 4-109737742-T-C
• gnomAD v4: 4-109737742-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737742T>C , CM000666.2:g.109737742T>C	GRCh38
NC_000004.11:g.110658898T>C , CM000666.1:g.110658898T>C	GRCh37
NC_000004.10:g.110878347T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1714-2946A>G
ENST00000695845.1:n.1712+4749A>G
ENST00000645635.1:c.1534+4749A>G	ENSP00000493607.1:n.1534+4749A>G
XM_011531920.1:c.1558+4749A>G	XP_011530222.1:n.1558+4749A>G
XM_011531920.2:c.1558+4749A>G	XP_011530222.1:n.1558+4749A>G
XM_017008164.2:c.1534+4749A>G	XP_016863653.1:n.1534+4749A>G
XM_017008165.2:c.1513+4749A>G	XP_016863654.1:n.1513+4749A>G
XM_017008166.2:c.1535-2942A>G	XP_016863655.1:n.1535-2942A>G
NM_001375278.1:c.1559-2946A>G	NP_001362207.1:n.1559-2946A>G
NM_001375279.1:c.1535-2946A>G	NP_001362208.1:n.1535-2946A>G
NM_001375280.1:c.1514-2946A>G	NP_001362209.1:n.1514-2946A>G
NM_001375281.1:c.1534+4749A>G	NP_001362210.1:n.1534+4749A>G
NM_001375282.1:c.1513+4749A>G	NP_001362211.1:n.1513+4749A>G