Gene: COL7A1 ENSG00000114270

Description

collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]

Gene Synonyms

EBD1, EBDCT, EBR1

Location

Chromosome 3: 48,601,506-48,632,700 reverse strand.

GRCh37:CM000665.1

About this gene

This gene has 11 transcripts (splice variants), 72 orthologues, 37 paralogues and is associated with 21 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000328333.8	COL7A1-001	9276	2944aa	ENSP00000332371.8	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2773	Q02388	NM_000094.3	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000454817.1	COL7A1-201	9073	2912aa	ENSP00000412569.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q02388	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000422991.1	COL7A1-003	597	173aa	ENSP00000391608.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JBL3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000470076.1	COL7A1-007	651	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000487017.1	COL7A1-002	5807	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000459756.1	COL7A1-005	818	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000466591.1	COL7A1-009	778	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000474432.1	COL7A1-006	728	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000467985.1	COL7A1-004	709	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000465238.1	COL7A1-008	587	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000462475.1	COL7A1-010	305	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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Gene: COL7A1 ENSG00000114270

Summary