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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: CLCN1 ENSG00000188037

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Description

chloride channel, voltage-sensitive 1 [Source:HGNC Symbol;Acc:2019]

Gene Synonyms

CLC1, ClC-1

Location

Chromosome 7: 143,013,219-143,049,176 forward strand.

GRCh37:CM000669.1

About this gene

This gene has 4 transcripts (splice variants), 8 paralogues and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000343257.2	CLCN1-001	3172	988aa	ENSP00000339867.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5881	P35523 Q75L28	NM_000083.2	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,
ENST00000455478.1	CLCN1-003	569	102aa	ENSP00000400027.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000432192.1	CLCN1-002	491	76aa	ENSP00000395949.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000495612.1	CLCN1-004	278	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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