Hs04195683_cn

• Gene Symbol: CFH
• Assay Reference Genome Location: Chr.1:196684487 on build GRCh38
• Cytoband: 1q31.3

Target Gene Details

• Entrez Gene ID: 3075
• Gene Name: complement factor H
• Gene Aliases: AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
• Location: Chr.1:196651878-196747504 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFH	NM_000186.3			NP_000177.2
	NM_001014975.2			NP_001014975.1
	XM_017001108.1			XP_016856597.1
	AK225649.1
	AK226113.1
	AK291395.1
	BC037285.2			AAH37285.1
	BC110643.1			AAI10644.1
	BC142699.1
	M12383.1			AAA52013.1
	X04697.1			CAB41739.1
	X07523.1			CAA30403.1
	Y00716.1			CAA68704.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv428290	Chr.1:196621707 - 196992672 on Build GRCh38	Gain+Loss	CFHR1 CFH CFHR5 CFHR2 CFHR3 CFHR4
nsv825997	Chr.1:196683834 - 196685330 on Build GRCh38	Loss	CFH
nsv818733	Chr.1:196673103 - 196691131 on Build GRCh38	Gain	CFH
nsv528460	Chr.1:196573437 - 197477572 on Build GRCh38	Gain	CFHR1 F13B MIR4735 KCNT2 ZBTB41 CFH CRB1 CFHR5 ASPM CFHR2 CFHR3 CFHR4
esv3588468	Chr.1:196683832 - 196685372 on Build GRCh38	Loss	CFH
nsv818744	Chr.1:196682702 - 196691131 on Build GRCh38	Gain	CFH

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

complement activation
complement activation, alternative pathway
regulation of complement activation

Function(s)

protein binding
heparin binding
heparan sulfate proteoglycan binding