Canonical Allele Identifier: CA9239811

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 871982
• ClinVar RCV Id: RCV001092215 ; RCV002069610
• dbSNP Id: rs751799133
• ExAC: 19:13345830 G / A
• gnomAD v3: 19-13235016-G-A
• gnomAD v4: 19-13235016-G-A
• MyVariant Identifiers: chr19:g.13345830G>A (hg19) ; chr19:g.13235016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235016G>A , CM000681.2:g.13235016G>A	GRCh38
NC_000019.9:g.13345830G>A , CM000681.1:g.13345830G>A	GRCh37
NC_000019.8:g.13206830G>A	NCBI36
NG_011569.1:g.276445C>T , LRG_7:g.276445C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5154C>T MANE Select	ENSP00000353362.5:p.Ile1718=
ENST00000573710.7:c.5160C>T	ENSP00000460092.3:p.Ile1720=
ENST00000573891.6:c.573C>T
ENST00000574822.6:n.378C>T
ENST00000585802.6:c.315C>T	ENSP00000465598.2:p.Ile105=
ENST00000593267.2:n.359C>T
ENST00000635727.1:c.5157C>T	ENSP00000490001.1:p.Ile1719=
ENST00000635742.1:n.1143C>T
ENST00000635895.1:c.5157C>T	ENSP00000490323.1:p.Ile1719=
ENST00000636012.1:c.5157C>T	ENSP00000490223.1:p.Ile1719=
ENST00000636058.1:c.469C>T
ENST00000636389.1:c.5157C>T	ENSP00000489992.1:p.Ile1719=
ENST00000636473.1:c.249C>T	ENSP00000490173.1:p.Ile83=
ENST00000636549.1:c.5163C>T	ENSP00000490578.1:p.Ile1721=
ENST00000637276.1:c.5157C>T	ENSP00000489777.1:p.Ile1719=
ENST00000637297.1:c.450C>T	ENSP00000489692.1:p.Ile150=
ENST00000637432.1:c.5172C>T	ENSP00000490617.1:p.Ile1724=
ENST00000637736.1:c.5016C>T	ENSP00000489861.1:p.Ile1672=
ENST00000637769.1:c.5157C>T	ENSP00000489778.1:p.Ile1719=
ENST00000637777.1:c.348C>T
ENST00000637809.1:n.547C>T
ENST00000637819.1:c.558C>T	ENSP00000490686.1:p.Ile186=
ENST00000637832.1:n.148C>T
ENST00000637927.1:c.5160C>T	ENSP00000489715.1:p.Ile1720=
ENST00000638009.2:c.5157C>T	ENSP00000489913.1:p.Ile1719=
ENST00000638029.1:c.5172C>T	ENSP00000489829.1:p.Ile1724=
ENST00000664864.1:c.5358C>T	ENSP00000499449.1:p.Ile1786=
ENST00000360228.9:c.5154C>T	ENSP00000353362.5:p.Ile1718=
ENST00000573710.6:c.5157C>T	ENSP00000460092.2:p.Ile1719=
ENST00000573891.5:c.573C>T
ENST00000574822.5:n.378C>T
ENST00000585802.5:c.1212C>T	ENSP00000465598.1:p.Ile404=
ENST00000587525.5:c.615C>T	ENSP00000467729.1:p.Ile205=
ENST00000593267.1:n.359C>T
ENST00000614285.4:c.5172C>T	ENSP00000479983.1:p.Ile1724=
NM_000068.3:c.5172C>T	NP_000059.3:p.Ile1724=
NM_001127221.1:c.5157C>T , LRG_7t1:c.5157C>T	NP_001120693.1:p.Ile1719=
NM_001127222.1:c.5154C>T	NP_001120694.1:p.Ile1718=
NM_001174080.1:c.5163C>T	NP_001167551.1:p.Ile1721=
NM_023035.2:c.5172C>T	NP_075461.2:p.Ile1724=
NM_000068.4:c.5172C>T	NP_000059.3:p.Ile1724=
NM_001127222.2:c.5154C>T MANE Select	NP_001120694.1:p.Ile1718=
NM_001174080.2:c.5163C>T	NP_001167551.1:p.Ile1721=
NM_023035.3:c.5172C>T	NP_075461.2:p.Ile1724=
NM_001127221.2:c.5157C>T	NP_001120693.1:p.Ile1719=