Canonical Allele Identifier: CA9239431

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 426943
• ClinVar RCV Id: RCV000488982 ; RCV000624453 ; RCV001364368
• dbSNP Id: rs769040794
• ExAC: 19:13323017 C / T
• gnomAD v2: 19-13323017-C-T
• gnomAD v3: 19-13212203-C-T
• gnomAD v4: 19-13212203-C-T
• MyVariant Identifiers: chr19:g.13323017C>T (hg19) ; chr19:g.13212203C>T (hg38)
• PubMed: PMID:1564484 ; PMID:3358708 ; PMID:8898206 ; PMID:8988170 ; PMID:9005860 ; PMID:9302278 ; PMID:9403487 ; PMID:9436730 ; PMID:9559993 ; PMID:9879686 ; PMID:11179022 ; PMID:11564488 ; PMID:11723274 ; PMID:12707077 ; PMID:14718690 ; PMID:15300451 ; PMID:15483044 ; PMID:15710862 ; PMID:16043807 ; PMID:16325861 ; PMID:16595610 ; PMID:17142831 ; PMID:17495624 ; PMID:17575281 ; PMID:18498393 ; PMID:18541804 ; PMID:18940563 ; PMID:19484318 ; PMID:19811514 ; PMID:20097664 ; PMID:20129625 ; PMID:20156848 ; PMID:20204399 ; PMID:20233618 ; PMID:20682717 ; PMID:22249839 ; PMID:23441182 ; PMID:23771276 ; PMID:23831250 ; PMID:23934111 ; PMID:25735478 ; PMID:25758715 ; PMID:26814174 ; PMID:27476654 ; PMID:28742085

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13212203C>T , CM000681.2:g.13212203C>T	GRCh38
NC_000019.9:g.13323017C>T , CM000681.1:g.13323017C>T	GRCh37
NC_000019.8:g.13184017C>T	NCBI36
NG_011569.1:g.299258G>A , LRG_7:g.299258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.6203G>A MANE Select	ENSP00000353362.5:p.Arg2068Gln
ENST00000573710.7:c.6209G>A	ENSP00000460092.3:p.Arg2070Gln
ENST00000585802.6:c.1364G>A	ENSP00000465598.2:p.Arg455Gln
ENST00000635727.1:c.6206G>A	ENSP00000490001.1:p.Arg2069Gln
ENST00000635895.1:c.6206G>A	ENSP00000490323.1:p.Arg2069Gln
ENST00000636012.1:c.6206G>A	ENSP00000490223.1:p.Arg2069Gln
ENST00000636389.1:c.6206G>A	ENSP00000489992.1:p.Arg2069Gln
ENST00000636473.1:c.1073G>A	ENSP00000490173.1:p.Arg358Gln
ENST00000636549.1:c.6212G>A	ENSP00000490578.1:p.Arg2071Gln
ENST00000636610.1:n.1120G>A
ENST00000636768.1:c.733G>A	ENSP00000490190.1:n.733G>A
ENST00000637276.1:c.6206G>A	ENSP00000489777.1:p.Arg2069Gln
ENST00000637432.1:c.6221G>A	ENSP00000490617.1:p.Arg2074Gln
ENST00000637736.1:c.6065G>A	ENSP00000489861.1:p.Arg2022Gln
ENST00000637769.1:c.6206G>A	ENSP00000489778.1:p.Arg2069Gln
ENST00000637927.1:c.6209G>A	ENSP00000489715.1:p.Arg2070Gln
ENST00000638009.2:c.6206G>A	ENSP00000489913.1:p.Arg2069Gln
ENST00000638029.1:c.6221G>A	ENSP00000489829.1:p.Arg2074Gln
ENST00000664864.1:c.6407G>A	ENSP00000499449.1:p.Arg2136Gln
ENST00000360228.9:c.6203G>A	ENSP00000353362.5:p.Arg2068Gln
ENST00000573710.6:c.6206G>A	ENSP00000460092.2:p.Arg2069Gln
ENST00000585802.5:c.2261G>A	ENSP00000465598.1:p.Arg754Gln
ENST00000587525.5:c.1664G>A	ENSP00000467729.1:p.Arg555Gln
ENST00000614285.4:c.6221G>A	ENSP00000479983.1:p.Arg2074Gln
NM_000068.3:c.6221G>A	NP_000059.3:p.Arg2074Gln
NM_001127221.1:c.6206G>A , LRG_7t1:c.6206G>A	NP_001120693.1:p.Arg2069Gln
NM_001127222.1:c.6203G>A	NP_001120694.1:p.Arg2068Gln
NM_001174080.1:c.6212G>A	NP_001167551.1:p.Arg2071Gln
NM_023035.2:c.6221G>A	NP_075461.2:p.Arg2074Gln
NM_000068.4:c.6221G>A	NP_000059.3:p.Arg2074Gln
NM_001127222.2:c.6203G>A MANE Select	NP_001120694.1:p.Arg2068Gln
NM_001174080.2:c.6212G>A	NP_001167551.1:p.Arg2071Gln
NM_023035.3:c.6221G>A	NP_075461.2:p.Arg2074Gln
NM_001127221.2:c.6206G>A	NP_001120693.1:p.Arg2069Gln