Canonical Allele Identifier: CA305546424

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 446945
• ClinVar RCV Id: RCV000517230 ; RCV001528777 ; RCV003985373
• dbSNP Id: rs1052515747
• gnomAD v2: 19-13318357-C-T
• gnomAD v3: 19-13207543-C-T
• gnomAD v4: 19-13207543-C-T
• MyVariant Identifiers: chr19:g.13318357C>T (hg19) ; chr19:g.13207543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13207543C>T , CM000681.2:g.13207543C>T	GRCh38
NC_000019.9:g.13318357C>T , CM000681.1:g.13318357C>T	GRCh37
NC_000019.8:g.13179357C>T	NCBI36
NG_011569.1:g.303918G>A , LRG_7:g.303918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.7291G>A MANE Select	ENSP00000353362.5:p.Ala2431Thr
ENST00000573710.7:c.7297G>A	ENSP00000460092.3:p.Ala2433Thr
ENST00000585802.6:c.2416G>A	ENSP00000465598.2:p.Ala806Thr
ENST00000635727.1:c.7294G>A	ENSP00000490001.1:p.Ala2432Thr
ENST00000635895.1:c.*503G>A	ENSP00000490323.1:n.*503G>A
ENST00000636012.1:c.7258G>A	ENSP00000490223.1:p.Ala2420Thr
ENST00000636389.1:c.*377G>A	ENSP00000489992.1:n.*377G>A
ENST00000637432.1:c.*503G>A	ENSP00000490617.1:n.*503G>A
ENST00000637736.1:c.7153G>A	ENSP00000489861.1:p.Ala2385Thr
ENST00000637769.1:c.7294G>A	ENSP00000489778.1:p.Ala2432Thr
ENST00000638009.2:c.*503G>A	ENSP00000489913.1:n.*503G>A
ENST00000638029.1:c.7309G>A	ENSP00000489829.1:p.Ala2437Thr
ENST00000360228.9:c.7291G>A	ENSP00000353362.5:p.Ala2431Thr
ENST00000573710.6:c.*503G>A	ENSP00000460092.2:n.*503G>A
ENST00000585802.5:c.3313G>A	ENSP00000465598.1:p.Ala1105Thr
ENST00000587525.5:c.2716G>A	ENSP00000467729.1:p.Ala906Thr
ENST00000614285.4:c.7309G>A	ENSP00000479983.1:p.Ala2437Thr
NM_000068.3:c.*503G>A	NP_000059.3:n.*503G>A
NM_001127221.1:c.*503G>A , LRG_7t1:c.*503G>A	NP_001120693.1:n.*503G>A
NM_001127222.1:c.7291G>A	NP_001120694.1:p.Ala2431Thr
NM_001174080.1:c.*503G>A	NP_001167551.1:n.*503G>A
NM_023035.2:c.7309G>A	NP_075461.2:p.Ala2437Thr
NM_000068.4:c.*503G>A	NP_000059.3:n.*503G>A
NM_001127222.2:c.7291G>A MANE Select	NP_001120694.1:p.Ala2431Thr
NM_001174080.2:c.*503G>A	NP_001167551.1:n.*503G>A
NM_023035.3:c.7309G>A	NP_075461.2:p.Ala2437Thr
NM_001127221.2:c.*503G>A	NP_001120693.1:n.*503G>A