Transcript: ENST00000320493.5 CFHR1-001

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

About this transcript

This transcript has 6 exons, is annotated with 27 domains and features, is associated with 5693 variant alleles and maps to 508 oligo probes.

Gene

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	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		-	-	-

Summary

Statistics

Exons: 6, Coding exons: 6, Transcript length: 1,271 bps, Translation length: 330 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q03591

CCDS

This transcript is a member of the Human CCDS set: CCDS1386

Version

ENST00000320493.5

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000088251 (version 2)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.