Description
sodium channel, voltage-gated, type V, alpha subunit [Source:HGNC Symbol;Acc:10593]
Gene Synonyms
CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
Location
Chromosome 3: 38,589,548-38,691,164 reverse strand.
GRCh37:CM000665.1
About this gene
This gene has 14 transcripts (splice variants), 16 paralogues and is associated with 19 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000413689.1 | SCN5A-001 | 8504 | 2016aa | ENSP00000410257.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46799 | A3EY20 A3EY21 H9KVD2 Q8WTS0 Q8WWN5 | NM_001160160.1 | 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, |
| ENST00000443581.1 | SCN5A-202 | 8501 | 2015aa | ENSP00000397915.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46797 | A3EY20 A3EY21 Q14524 Q8WTQ6 Q8WWN5 | NM_198056.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000333535.4 | SCN5A-014 | 8456 | 2016aa | ENSP00000328968.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46796 | A3EY20 A3EY21 Q14524 Q8WTQ6 Q8WWN5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000425664.1 | SCN5A-201 | 8450 | 1998aa | ENSP00000416634.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46798 | A3EY20 A3EY21 E9PG18 Q8WTS0 Q8WWN5 | NM_001099405.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000423572.2 | SCN5A-003 | 8362 | 2015aa | ENSP00000398266.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46797 | A3EY20 A3EY21 Q14524 Q8WTQ6 Q8WWN5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000451551.2 | SCN5A-203 | 8343 | 1962aa | ENSP00000388797.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54569 | A3EY20 A3EY21 K4DIA1 Q8WTS0 Q8WWN5 | NM_001160161.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000414099.2 | SCN5A-004 | 8303 | 1998aa | ENSP00000398962.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46798 | A3EY20 A3EY21 E9PG18 Q8WTS0 Q8WWN5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000455624.2 | SCN5A-002 | 7170 | 1983aa | ENSP00000399524.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54570 | A3EY21 E9PHB6 Q8WTS0 Q8WWN5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000450102.2 | SCN5A-008 | 6284 | 1962aa | ENSP00000403355.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54569 | A3EY20 A3EY21 K4DIA1 Q8WTS0 Q8WWN5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000449557.2 | SCN5A-010 | 5898 | 1962aa | ENSP00000413996.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A3EY20 A3EY21 Q8WTQ6 Q8WWN5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000327956.6 | SCN5A-006 | 335 | 65aa | ENSP00000333674.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A3EY21 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000464652.1 | SCN5A-011 | 591 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000491944.1 | SCN5A-005 | 1382 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000476683.1 | SCN5A-013 | 774 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
