Gene: SCN4A ENSG00000007314

Description

sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]

Gene Synonyms

HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1

Location

GRCh37:CM000679.1

About this gene

This gene has 4 transcripts (splice variants), 16 paralogues and is associated with 18 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000435607.1	SCN4A-201	7805	1836aa	ENSP00000396320.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45761	P35499 Q9H3L9	NM_000334.4	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,
ENST00000578147.1	SCN4A-001	7805	1836aa	ENSP00000463963.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3QQZ1 Q9H3L9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000584310.1	SCN4A-003	577	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000581514.1	SCN4A-002	567	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary