Canonical Allele Identifier: CA9239362

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 542823
• ClinVar RCV Id: RCV000653326 ; RCV002532006 ; RCV003411551
• dbSNP Id: rs751044309
• ExAC: 19:13320203 C / T
• gnomAD v2: 19-13320203-C-T
• gnomAD v3: 19-13209389-C-T
• gnomAD v4: 19-13209389-C-T
• MyVariant Identifiers: chr19:g.13320203C>T (hg19) ; chr19:g.13209389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13209389C>T , CM000681.2:g.13209389C>T	GRCh38
NC_000019.9:g.13320203C>T , CM000681.1:g.13320203C>T	GRCh37
NC_000019.8:g.13181203C>T	NCBI36
NG_011569.1:g.302072G>A , LRG_7:g.302072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.6449G>A MANE Select	ENSP00000353362.5:p.Arg2150Gln
ENST00000573710.7:c.6455G>A	ENSP00000460092.3:p.Arg2152Gln
ENST00000585802.6:c.1574G>A	ENSP00000465598.2:p.Arg525Gln
ENST00000635727.1:c.6452G>A	ENSP00000490001.1:p.Arg2151Gln
ENST00000635895.1:c.6452G>A	ENSP00000490323.1:p.Arg2151Gln
ENST00000636012.1:c.6416G>A	ENSP00000490223.1:p.Arg2139Gln
ENST00000636389.1:c.6452G>A	ENSP00000489992.1:p.Arg2151Gln
ENST00000636473.1:c.1319G>A	ENSP00000490173.1:p.Arg440Gln
ENST00000636549.1:c.6458G>A	ENSP00000490578.1:p.Arg2153Gln
ENST00000636610.1:n.2816G>A
ENST00000636768.1:c.943G>A	ENSP00000490190.1:n.943G>A
ENST00000637276.1:c.6416G>A	ENSP00000489777.1:p.Arg2139Gln
ENST00000637432.1:c.6467G>A	ENSP00000490617.1:p.Arg2156Gln
ENST00000637736.1:c.6311G>A	ENSP00000489861.1:p.Arg2104Gln
ENST00000637769.1:c.6452G>A	ENSP00000489778.1:p.Arg2151Gln
ENST00000637927.1:c.6455G>A	ENSP00000489715.1:p.Arg2152Gln
ENST00000638009.2:c.6452G>A	ENSP00000489913.1:p.Arg2151Gln
ENST00000638029.1:c.6467G>A	ENSP00000489829.1:p.Arg2156Gln
ENST00000664864.1:c.6653G>A	ENSP00000499449.1:p.Arg2218Gln
ENST00000360228.9:c.6449G>A	ENSP00000353362.5:p.Arg2150Gln
ENST00000573710.6:c.6452G>A	ENSP00000460092.2:p.Arg2151Gln
ENST00000585802.5:c.2471G>A	ENSP00000465598.1:p.Arg824Gln
ENST00000587525.5:c.1874G>A	ENSP00000467729.1:p.Arg625Gln
ENST00000614285.4:c.6467G>A	ENSP00000479983.1:p.Arg2156Gln
NM_000068.3:c.6467G>A	NP_000059.3:p.Arg2156Gln
NM_001127221.1:c.6452G>A , LRG_7t1:c.6452G>A	NP_001120693.1:p.Arg2151Gln
NM_001127222.1:c.6449G>A	NP_001120694.1:p.Arg2150Gln
NM_001174080.1:c.6458G>A	NP_001167551.1:p.Arg2153Gln
NM_023035.2:c.6467G>A	NP_075461.2:p.Arg2156Gln
NM_000068.4:c.6467G>A	NP_000059.3:p.Arg2156Gln
NM_001127222.2:c.6449G>A MANE Select	NP_001120694.1:p.Arg2150Gln
NM_001174080.2:c.6458G>A	NP_001167551.1:p.Arg2153Gln
NM_023035.3:c.6467G>A	NP_075461.2:p.Arg2156Gln
NM_001127221.2:c.6452G>A	NP_001120693.1:p.Arg2151Gln