Gene: CACNA1H ENSG00000196557

Description

calcium channel, voltage-dependent, T type, alpha 1H subunit [Source:HGNC Symbol;Acc:1395]

Gene Synonyms

CACNA1HB, Cav3.2, ECA6, EIG6

Location

Chromosome 16: 1,203,241-1,271,771 forward strand.

GRCh37:CM000678.1

About this gene

This gene has 9 transcripts (splice variants), 16 paralogues and is associated with 4 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000348261.5	CACNA1H-001	8084	2353aa	ENSP00000334198.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45375	O95180 Q9NYY6 Q9NYY7	NM_021098.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000358590.4	CACNA1H-201	8069	2347aa	ENSP00000351401.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45376	O95180 Q9NYY6 Q9NYY7	NM_001005407.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000565831.1	CACNA1H-002	7134	2347aa	ENSP00000455840.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45376	O95180 Q9NYY6 Q9NYY7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000564927.1	CACNA1H-006	3464	897aa	ENSP00000455512.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000569107.1	CACNA1H-004	3391	1100aa	ENSP00000454990.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000564231.1	CACNA1H-003	3343	1084aa	ENSP00000457555.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000562079.1	CACNA1H-005	3325	1078aa	ENSP00000454581.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000569953.1	CACNA1H-008	867	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000564954.1	CACNA1H-007	607	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: CACNA1H ENSG00000196557

Summary