Hs00112988_cn

• Gene Symbol: CFH
• Assay Reference Genome Location: Chr.1:196677544 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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFH	NM_000186.3	5	736	NP_000177.2
	NM_001014975.2	5	736	NP_001014975.1
	XM_017001108.1	5	618	XP_016856597.1
	AK225649.1	5	576
	AK226113.1	1	569
	AK291395.1	5	575
	BC037285.2	5	561	AAH37285.1
	BC110643.1	5	552	AAI10644.1
	BC142699.1	5	548
	X04697.1	4	340	CAB41739.1
	X07523.1	5	569	CAA30403.1
	Y00716.1	5	569	CAA68704.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758990	Chr.1:196621707 - 197200642 on Build GRCh38	Gain+Loss	ZBTB41 CFHR5 CFHR4 ASPM CFHR3 F13B CFHR2 CFH CFHR1
nsv528460	Chr.1:196573437 - 197477572 on Build GRCh38	Gain	ZBTB41 CFHR5 KCNT2 CFHR4 ASPM CFHR3 MIR4735 F13B CRB1 CFHR2 CFH CFHR1
nsv818733	Chr.1:196673103 - 196691131 on Build GRCh38	Gain	CFH

More Information

• Set Membership: Intragenic, 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