Canonical Allele Identifier: CA254496
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 8513
ClinVar RCV Id: RCV000009039 RCV000516653
dbSNP Id: rs121908230
gnomAD v4: 19-13262789-C-T
MyVariant Identifiers: chr19:g.13373603C>T (hg19) chr19:g.13262789C>T (hg38)
PubMed: PMID:15032980 PMID:18400034
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13262789C>T , CM000681.2:g.13262789C>T GRCh38
NC_000019.9:g.13373603C>T , CM000681.1:g.13373603C>T GRCh37
NC_000019.8:g.13234603C>T NCBI36
NG_011569.1:g.248672G>A , LRG_7:g.248672G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.4034G>A MANE Select ENSP00000353362.5:p.Arg1345Gln
ENST00000573710.7:c.4040G>A ENSP00000460092.3:p.Arg1347Gln
ENST00000635727.1:c.4037G>A ENSP00000490001.1:p.Arg1346Gln
ENST00000635742.1:n.23G>A
ENST00000635895.1:c.4037G>A ENSP00000490323.1:p.Arg1346Gln
ENST00000635917.1:n.526G>A
ENST00000636012.1:c.4037G>A ENSP00000490223.1:p.Arg1346Gln
ENST00000636389.1:c.4037G>A ENSP00000489992.1:p.Arg1346Gln
ENST00000636549.1:c.4037G>A ENSP00000490578.1:p.Arg1346Gln
ENST00000636816.1:n.722G>A
ENST00000637004.1:n.500G>A
ENST00000637276.1:c.4037G>A ENSP00000489777.1:p.Arg1346Gln
ENST00000637432.1:c.4046G>A ENSP00000490617.1:p.Arg1349Gln
ENST00000637692.1:n.356G>A
ENST00000637736.1:c.3896G>A ENSP00000489861.1:p.Arg1299Gln
ENST00000637769.1:c.4037G>A ENSP00000489778.1:p.Arg1346Gln
ENST00000637927.1:c.4040G>A ENSP00000489715.1:p.Arg1347Gln
ENST00000638009.2:c.4037G>A ENSP00000489913.1:p.Arg1346Gln
ENST00000638029.1:c.4046G>A ENSP00000489829.1:p.Arg1349Gln
ENST00000664864.1:c.4232G>A ENSP00000499449.1:p.Arg1411Gln
ENST00000360228.9:c.4034G>A ENSP00000353362.5:p.Arg1345Gln
ENST00000573710.6:c.4037G>A ENSP00000460092.2:p.Arg1346Gln
ENST00000585802.5:c.92G>A ENSP00000465598.1:p.Arg31Gln
ENST00000590205.1:n.113G>A
ENST00000614285.4:c.4046G>A ENSP00000479983.1:p.Arg1349Gln
NM_000068.3:c.4046G>A NP_000059.3:p.Arg1349Gln
NM_001127221.1:c.4037G>A , LRG_7t1:c.4037G>A NP_001120693.1:p.Arg1346Gln
NM_001127222.1:c.4034G>A NP_001120694.1:p.Arg1345Gln
NM_001174080.1:c.4037G>A NP_001167551.1:p.Arg1346Gln
NM_023035.2:c.4046G>A NP_075461.2:p.Arg1349Gln
NM_000068.4:c.4046G>A NP_000059.3:p.Arg1349Gln
NM_001127222.2:c.4034G>A MANE Select NP_001120694.1:p.Arg1345Gln
NM_001174080.2:c.4037G>A NP_001167551.1:p.Arg1346Gln
NM_023035.3:c.4046G>A NP_075461.2:p.Arg1349Gln
NM_001127221.2:c.4037G>A NP_001120693.1:p.Arg1346Gln
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