Gene: CACNA1D ENSG00000157388

Description

calcium channel, voltage-dependent, L type, alpha 1D subunit [Source:HGNC Symbol;Acc:1391]

Gene Synonyms

CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD

Location

Chromosome 3: 53,528,683-53,847,760 forward strand.

GRCh37:CM000665.1

About this gene

This gene has 9 transcripts (splice variants), 16 paralogues and is associated with 81 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000288139.4	CACNA1D-001	8991	2181aa	ENSP00000288139.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2872	Q01668	NM_000720.3	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000350061.5	CACNA1D-003	7636	2161aa	ENSP00000288133.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46848	Q01668	NM_001128840.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000422281.2	CACNA1D-002	6414	2137aa	ENSP00000409174.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46849	Q01668	NM_001128839.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000481478.1	CACNA1D-004	5667	1854aa	ENSP00000418014.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q59GD8	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000540742.1	CACNA1D-201	1830	539aa	ENSP00000438229.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H313	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000544977.1	CACNA1D-202	1749	351aa	ENSP00000440956.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z269	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000481085.1	CACNA1D-007	791	264aa	ENSP00000418045.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000498251.1	CACNA1D-005	836	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000464429.1	CACNA1D-006	493	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

EMBL-EBI User Survey 2024

Gene: CACNA1D ENSG00000157388

Summary

EMBL-EBI User Survey 2024

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Gene: CACNA1D ENSG00000157388

Summary