Canonical Allele Identifier: CA16608118

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 386110
• ClinVar RCV Id: RCV000428422 ; RCV001336212 ; RCV002059624
• dbSNP Id: rs1057522421
• gnomAD v4: 19-13214215-G-C
• MyVariant Identifiers: chr19:g.13325029G>C (hg19) ; chr19:g.13214215G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13214215G>C , CM000681.2:g.13214215G>C	GRCh38
NC_000019.9:g.13325029G>C , CM000681.1:g.13325029G>C	GRCh37
NC_000019.8:g.13186029G>C	NCBI36
NG_011569.1:g.297246C>G , LRG_7:g.297246C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5940+18C>G MANE Select	ENSP00000353362.5:n.5940+18C>G
ENST00000573710.7:c.5946+18C>G	ENSP00000460092.3:n.5946+18C>G
ENST00000585802.6:c.1101+18C>G	ENSP00000465598.2:n.1101+18C>G
ENST00000635727.1:c.5943+18C>G	ENSP00000490001.1:n.5943+18C>G
ENST00000635895.1:c.5943+18C>G	ENSP00000490323.1:n.5943+18C>G
ENST00000635988.1:n.2116C>G
ENST00000636012.1:c.5943+18C>G	ENSP00000490223.1:n.5943+18C>G
ENST00000636074.1:n.1020C>G
ENST00000636389.1:c.5943+18C>G	ENSP00000489992.1:n.5943+18C>G
ENST00000636473.1:c.810+18C>G	ENSP00000490173.1:n.810+18C>G
ENST00000636549.1:c.5949+18C>G	ENSP00000490578.1:n.5949+18C>G
ENST00000636610.1:n.857+18C>G
ENST00000636768.1:c.470+18C>G	ENSP00000490190.1:n.470+18C>G
ENST00000637276.1:c.5943+18C>G	ENSP00000489777.1:n.5943+18C>G
ENST00000637432.1:c.5958+18C>G	ENSP00000490617.1:n.5958+18C>G
ENST00000637736.1:c.5802+18C>G	ENSP00000489861.1:n.5802+18C>G
ENST00000637769.1:c.5943+18C>G	ENSP00000489778.1:n.5943+18C>G
ENST00000637819.1:c.1344+18C>G	ENSP00000490686.1:n.1344+18C>G
ENST00000637927.1:c.5946+18C>G	ENSP00000489715.1:n.5946+18C>G
ENST00000638009.2:c.5943+18C>G	ENSP00000489913.1:n.5943+18C>G
ENST00000638029.1:c.5958+18C>G	ENSP00000489829.1:n.5958+18C>G
ENST00000638114.1:n.170C>G
ENST00000664864.1:c.6144+18C>G	ENSP00000499449.1:n.6144+18C>G
ENST00000360228.9:c.5940+18C>G	ENSP00000353362.5:n.5940+18C>G
ENST00000573710.6:c.5943+18C>G	ENSP00000460092.2:n.5943+18C>G
ENST00000585802.5:c.1998+18C>G	ENSP00000465598.1:n.1998+18C>G
ENST00000587525.5:c.1401+18C>G	ENSP00000467729.1:n.1401+18C>G
ENST00000614285.4:c.5958+18C>G	ENSP00000479983.1:n.5958+18C>G
NM_000068.3:c.5958+18C>G	NP_000059.3:n.5958+18C>G
NM_001127221.1:c.5943+18C>G , LRG_7t1:c.5943+18C>G	NP_001120693.1:n.5943+18C>G
NM_001127222.1:c.5940+18C>G	NP_001120694.1:n.5940+18C>G
NM_001174080.1:c.5949+18C>G	NP_001167551.1:n.5949+18C>G
NM_023035.2:c.5958+18C>G	NP_075461.2:n.5958+18C>G
NM_000068.4:c.5958+18C>G	NP_000059.3:n.5958+18C>G
NM_001127222.2:c.5940+18C>G MANE Select	NP_001120694.1:n.5940+18C>G
NM_001174080.2:c.5949+18C>G	NP_001167551.1:n.5949+18C>G
NM_023035.3:c.5958+18C>G	NP_075461.2:n.5958+18C>G
NM_001127221.2:c.5943+18C>G	NP_001120693.1:n.5943+18C>G