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 103 phenotypes.

Transcripts

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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	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		-	-	-

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Gene: CACNA1D ENSG00000157388

Summary