Gene: CFHR1 ENSG00000244414

Description

complement factor H-related 1 [Source:HGNC Symbol;Acc:4888]

Gene Synonyms

CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2

Location

GRCh37:CM000663.1

About this gene

This gene has 5 transcripts (splice variants), 6 paralogues and is associated with 3 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000320493.5	CFHR1-001	1271	330aa	ENSP00000314299.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1386	Q03591 Q6LBM9	NM_002113.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000367424.4	CFHR1-002	1070	271aa	ENSP00000356394.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B1AKG0 Q6LBM9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000472961.1	CFHR1-003	399	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000480960.1	CFHR1-005	723	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000468079.1	CFHR1-006	588	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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