Gene: KCNA1 ENSG00000111262

Description

potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) [Source:HGNC Symbol;Acc:6218]

Gene Synonyms

AEMK, EA1, HBK1, HUK1, KV1.1, Kv1.1, MBK1, MK1, RBK1

Location

GRCh37:CM000674.1

About this gene

This gene has 3 transcripts (splice variants), 14 paralogues and is associated with 8 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000382545.3	KCNA1-001	7976	495aa	ENSP00000371985.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8535	Q09470	NM_000217.2	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000543874.2	KCNA1-003	567	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000541095.1	KCNA1-002	481	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary