Canonical Allele Identifier: CA9239767

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 542838
• ClinVar RCV Id: RCV000653351 ; RCV003424256
• dbSNP Id: rs753902560
• ExAC: 19:13342668 G / A
• gnomAD v2: 19-13342668-G-A
• gnomAD v3: 19-13231854-G-A
• gnomAD v4: 19-13231854-G-A
• MyVariant Identifiers: chr19:g.13342668G>A (hg19) ; chr19:g.13231854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231854G>A , CM000681.2:g.13231854G>A	GRCh38
NC_000019.9:g.13342668G>A , CM000681.1:g.13342668G>A	GRCh37
NC_000019.8:g.13203668G>A	NCBI36
NG_011569.1:g.279607C>T , LRG_7:g.279607C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5256C>T MANE Select	ENSP00000353362.5:p.Ala1752=
ENST00000573710.7:c.5262C>T	ENSP00000460092.3:p.Ala1754=
ENST00000573891.6:c.675C>T
ENST00000574822.6:n.480C>T
ENST00000585802.6:c.417C>T	ENSP00000465598.2:p.Ala139=
ENST00000635727.1:c.5259C>T	ENSP00000490001.1:p.Ala1753=
ENST00000635742.1:n.1245C>T
ENST00000635895.1:c.5259C>T	ENSP00000490323.1:p.Ala1753=
ENST00000636012.1:c.5259C>T	ENSP00000490223.1:p.Ala1753=
ENST00000636058.1:c.571C>T
ENST00000636389.1:c.5259C>T	ENSP00000489992.1:p.Ala1753=
ENST00000636473.1:c.351C>T	ENSP00000490173.1:p.Ala117=
ENST00000636549.1:c.5265C>T	ENSP00000490578.1:p.Ala1755=
ENST00000637276.1:c.5259C>T	ENSP00000489777.1:p.Ala1753=
ENST00000637297.1:c.552C>T	ENSP00000489692.1:p.Ala184=
ENST00000637432.1:c.5274C>T	ENSP00000490617.1:p.Ala1758=
ENST00000637736.1:c.5118C>T	ENSP00000489861.1:p.Ala1706=
ENST00000637769.1:c.5259C>T	ENSP00000489778.1:p.Ala1753=
ENST00000637777.1:c.450C>T
ENST00000637809.1:n.649C>T
ENST00000637819.1:c.660C>T	ENSP00000490686.1:p.Ala220=
ENST00000637832.1:n.250C>T
ENST00000637927.1:c.5262C>T	ENSP00000489715.1:p.Ala1754=
ENST00000638009.2:c.5259C>T	ENSP00000489913.1:p.Ala1753=
ENST00000638029.1:c.5274C>T	ENSP00000489829.1:p.Ala1758=
ENST00000664864.1:c.5460C>T	ENSP00000499449.1:p.Ala1820=
ENST00000360228.9:c.5256C>T	ENSP00000353362.5:p.Ala1752=
ENST00000573710.6:c.5259C>T	ENSP00000460092.2:p.Ala1753=
ENST00000573891.5:c.675C>T
ENST00000574822.5:n.480C>T
ENST00000585802.5:c.1314C>T	ENSP00000465598.1:p.Ala438=
ENST00000587525.5:c.717C>T	ENSP00000467729.1:p.Ala239=
ENST00000614285.4:c.5274C>T	ENSP00000479983.1:p.Ala1758=
NM_000068.3:c.5274C>T	NP_000059.3:p.Ala1758=
NM_001127221.1:c.5259C>T , LRG_7t1:c.5259C>T	NP_001120693.1:p.Ala1753=
NM_001127222.1:c.5256C>T	NP_001120694.1:p.Ala1752=
NM_001174080.1:c.5265C>T	NP_001167551.1:p.Ala1755=
NM_023035.2:c.5274C>T	NP_075461.2:p.Ala1758=
NM_000068.4:c.5274C>T	NP_000059.3:p.Ala1758=
NM_001127222.2:c.5256C>T MANE Select	NP_001120694.1:p.Ala1752=
NM_001174080.2:c.5265C>T	NP_001167551.1:p.Ala1755=
NM_023035.3:c.5274C>T	NP_075461.2:p.Ala1758=
NM_001127221.2:c.5259C>T	NP_001120693.1:p.Ala1753=