Canonical Allele Identifier: CA16620773
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 423943
ClinVar RCV Id: RCV000483754 RCV001379725
dbSNP Id: rs1064796709
gnomAD v4: 19-13212218-T-G
MyVariant Identifiers: chr19:g.13323032T>G (hg19) chr19:g.13212218T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13212218T>G , CM000681.2:g.13212218T>G GRCh38
NC_000019.9:g.13323032T>G , CM000681.1:g.13323032T>G GRCh37
NC_000019.8:g.13184032T>G NCBI36
NG_011569.1:g.299243A>C , LRG_7:g.299243A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.6190-2A>C MANE Select ENSP00000353362.5:n.6190-2A>C
ENST00000573710.7:c.6196-2A>C ENSP00000460092.3:n.6196-2A>C
ENST00000585802.6:c.1351-2A>C ENSP00000465598.2:n.1351-2A>C
ENST00000635727.1:c.6193-2A>C ENSP00000490001.1:n.6193-2A>C
ENST00000635895.1:c.6193-2A>C ENSP00000490323.1:n.6193-2A>C
ENST00000636012.1:c.6193-2A>C ENSP00000490223.1:n.6193-2A>C
ENST00000636389.1:c.6193-2A>C ENSP00000489992.1:n.6193-2A>C
ENST00000636473.1:c.1060-2A>C ENSP00000490173.1:n.1060-2A>C
ENST00000636549.1:c.6199-2A>C ENSP00000490578.1:n.6199-2A>C
ENST00000636610.1:n.1107-2A>C
ENST00000636768.1:c.720-2A>C ENSP00000490190.1:n.720-2A>C
ENST00000637276.1:c.6193-2A>C ENSP00000489777.1:n.6193-2A>C
ENST00000637432.1:c.6208-2A>C ENSP00000490617.1:n.6208-2A>C
ENST00000637736.1:c.6052-2A>C ENSP00000489861.1:n.6052-2A>C
ENST00000637769.1:c.6193-2A>C ENSP00000489778.1:n.6193-2A>C
ENST00000637927.1:c.6196-2A>C ENSP00000489715.1:n.6196-2A>C
ENST00000638009.2:c.6193-2A>C ENSP00000489913.1:n.6193-2A>C
ENST00000638029.1:c.6208-2A>C ENSP00000489829.1:n.6208-2A>C
ENST00000664864.1:c.6394-2A>C ENSP00000499449.1:n.6394-2A>C
ENST00000360228.9:c.6190-2A>C ENSP00000353362.5:n.6190-2A>C
ENST00000573710.6:c.6193-2A>C ENSP00000460092.2:n.6193-2A>C
ENST00000585802.5:c.2248-2A>C ENSP00000465598.1:n.2248-2A>C
ENST00000587525.5:c.1651-2A>C ENSP00000467729.1:n.1651-2A>C
ENST00000614285.4:c.6208-2A>C ENSP00000479983.1:n.6208-2A>C
NM_000068.3:c.6208-2A>C NP_000059.3:n.6208-2A>C
NM_001127221.1:c.6193-2A>C , LRG_7t1:c.6193-2A>C NP_001120693.1:n.6193-2A>C
NM_001127222.1:c.6190-2A>C NP_001120694.1:n.6190-2A>C
NM_001174080.1:c.6199-2A>C NP_001167551.1:n.6199-2A>C
NM_023035.2:c.6208-2A>C NP_075461.2:n.6208-2A>C
NM_000068.4:c.6208-2A>C NP_000059.3:n.6208-2A>C
NM_001127222.2:c.6190-2A>C MANE Select NP_001120694.1:n.6190-2A>C
NM_001174080.2:c.6199-2A>C NP_001167551.1:n.6199-2A>C
NM_023035.3:c.6208-2A>C NP_075461.2:n.6208-2A>C
NM_001127221.2:c.6193-2A>C NP_001120693.1:n.6193-2A>C
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