Canonical Allele Identifier: CA254430

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 8495
• ClinVar RCV Id: RCV000009017 ; RCV000517293 ; RCV001381850 ; RCV001542800
• dbSNP Id: rs121908216
• gnomAD v4: 19-13235702-C-T
• MyVariant Identifiers: chr19:g.13346516C>T (hg19) ; chr19:g.13235702C>T (hg38)
• PubMed: PMID:10987655 ; PMID:26814174

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235702C>T , CM000681.2:g.13235702C>T	GRCh38
NC_000019.9:g.13346516C>T , CM000681.1:g.13346516C>T	GRCh37
NC_000019.8:g.13207516C>T	NCBI36
NG_011569.1:g.275759G>A , LRG_7:g.275759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4979G>A MANE Select	ENSP00000353362.5:p.Arg1660His
ENST00000573710.7:c.4985G>A	ENSP00000460092.3:p.Arg1662His
ENST00000573891.6:c.398G>A
ENST00000574822.6:n.203G>A
ENST00000585802.6:c.140G>A	ENSP00000465598.2:p.Arg47His
ENST00000593267.2:n.184G>A
ENST00000635727.1:c.4982G>A	ENSP00000490001.1:p.Arg1661His
ENST00000635742.1:n.968G>A
ENST00000635895.1:c.4982G>A	ENSP00000490323.1:p.Arg1661His
ENST00000636012.1:c.4982G>A	ENSP00000490223.1:p.Arg1661His
ENST00000636058.1:c.294G>A
ENST00000636389.1:c.4982G>A	ENSP00000489992.1:p.Arg1661His
ENST00000636473.1:c.140G>A	ENSP00000490173.1:p.Arg47His
ENST00000636549.1:c.4988G>A	ENSP00000490578.1:p.Arg1663His
ENST00000637276.1:c.4982G>A	ENSP00000489777.1:p.Arg1661His
ENST00000637297.1:c.275G>A	ENSP00000489692.1:p.Arg92His
ENST00000637432.1:c.4997G>A	ENSP00000490617.1:p.Arg1666His
ENST00000637736.1:c.4841G>A	ENSP00000489861.1:p.Arg1614His
ENST00000637769.1:c.4982G>A	ENSP00000489778.1:p.Arg1661His
ENST00000637777.1:c.239G>A
ENST00000637809.1:n.372G>A
ENST00000637819.1:c.383G>A	ENSP00000490686.1:p.Arg128His
ENST00000637927.1:c.4985G>A	ENSP00000489715.1:p.Arg1662His
ENST00000638009.2:c.4982G>A	ENSP00000489913.1:p.Arg1661His
ENST00000638029.1:c.4997G>A	ENSP00000489829.1:p.Arg1666His
ENST00000664864.1:c.5183G>A	ENSP00000499449.1:p.Arg1728His
ENST00000360228.9:c.4979G>A	ENSP00000353362.5:p.Arg1660His
ENST00000573710.6:c.4982G>A	ENSP00000460092.2:p.Arg1661His
ENST00000573891.5:c.398G>A
ENST00000574822.5:n.203G>A
ENST00000585802.5:c.1037G>A	ENSP00000465598.1:p.Arg346His
ENST00000587525.5:c.440G>A	ENSP00000467729.1:p.Arg147His
ENST00000593267.1:n.184G>A
ENST00000614285.4:c.4997G>A	ENSP00000479983.1:p.Arg1666His
NM_000068.3:c.4997G>A	NP_000059.3:p.Arg1666His
NM_001127221.1:c.4982G>A , LRG_7t1:c.4982G>A	NP_001120693.1:p.Arg1661His
NM_001127222.1:c.4979G>A	NP_001120694.1:p.Arg1660His
NM_001174080.1:c.4988G>A	NP_001167551.1:p.Arg1663His
NM_023035.2:c.4997G>A	NP_075461.2:p.Arg1666His
NM_000068.4:c.4997G>A	NP_000059.3:p.Arg1666His
NM_001127222.2:c.4979G>A MANE Select	NP_001120694.1:p.Arg1660His
NM_001174080.2:c.4988G>A	NP_001167551.1:p.Arg1663His
NM_023035.3:c.4997G>A	NP_075461.2:p.Arg1666His
NM_001127221.2:c.4982G>A	NP_001120693.1:p.Arg1661His