Canonical Allele Identifier: CA404336598

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 2953049
• ClinVar RCV Id: RCV003810167
• MyVariant Identifiers: chr19:g.13346444A>G (hg19) ; chr19:g.13235630A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235630A>G , CM000681.2:g.13235630A>G	GRCh38
NC_000019.9:g.13346444A>G , CM000681.1:g.13346444A>G	GRCh37
NC_000019.8:g.13207444A>G	NCBI36
NG_011569.1:g.275831T>C , LRG_7:g.275831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5051T>C MANE Select	ENSP00000353362.5:p.Phe1684Ser
ENST00000573710.7:c.5057T>C	ENSP00000460092.3:p.Phe1686Ser
ENST00000573891.6:c.470T>C
ENST00000574822.6:n.275T>C
ENST00000585802.6:c.212T>C	ENSP00000465598.2:p.Phe71Ser
ENST00000593267.2:n.256T>C
ENST00000635727.1:c.5054T>C	ENSP00000490001.1:p.Phe1685Ser
ENST00000635742.1:n.1040T>C
ENST00000635895.1:c.5054T>C	ENSP00000490323.1:p.Phe1685Ser
ENST00000636012.1:c.5054T>C	ENSP00000490223.1:p.Phe1685Ser
ENST00000636058.1:c.366T>C
ENST00000636389.1:c.5054T>C	ENSP00000489992.1:p.Phe1685Ser
ENST00000636473.1:c.212T>C	ENSP00000490173.1:p.Phe71Ser
ENST00000636549.1:c.5060T>C	ENSP00000490578.1:p.Phe1687Ser
ENST00000637276.1:c.5054T>C	ENSP00000489777.1:p.Phe1685Ser
ENST00000637297.1:c.347T>C	ENSP00000489692.1:p.Phe116Ser
ENST00000637432.1:c.5069T>C	ENSP00000490617.1:p.Phe1690Ser
ENST00000637736.1:c.4913T>C	ENSP00000489861.1:p.Phe1638Ser
ENST00000637769.1:c.5054T>C	ENSP00000489778.1:p.Phe1685Ser
ENST00000637777.1:c.311T>C
ENST00000637809.1:n.444T>C
ENST00000637819.1:c.455T>C	ENSP00000490686.1:p.Phe152Ser
ENST00000637832.1:n.45T>C
ENST00000637927.1:c.5057T>C	ENSP00000489715.1:p.Phe1686Ser
ENST00000638009.2:c.5054T>C	ENSP00000489913.1:p.Phe1685Ser
ENST00000638029.1:c.5069T>C	ENSP00000489829.1:p.Phe1690Ser
ENST00000664864.1:c.5255T>C	ENSP00000499449.1:p.Phe1752Ser
ENST00000360228.9:c.5051T>C	ENSP00000353362.5:p.Phe1684Ser
ENST00000573710.6:c.5054T>C	ENSP00000460092.2:p.Phe1685Ser
ENST00000573891.5:c.470T>C
ENST00000574822.5:n.275T>C
ENST00000585802.5:c.1109T>C	ENSP00000465598.1:p.Phe370Ser
ENST00000587525.5:c.512T>C	ENSP00000467729.1:p.Phe171Ser
ENST00000593267.1:n.256T>C
ENST00000614285.4:c.5069T>C	ENSP00000479983.1:p.Phe1690Ser
NM_000068.3:c.5069T>C	NP_000059.3:p.Phe1690Ser
NM_001127221.1:c.5054T>C , LRG_7t1:c.5054T>C	NP_001120693.1:p.Phe1685Ser
NM_001127222.1:c.5051T>C	NP_001120694.1:p.Phe1684Ser
NM_001174080.1:c.5060T>C	NP_001167551.1:p.Phe1687Ser
NM_023035.2:c.5069T>C	NP_075461.2:p.Phe1690Ser
NM_000068.4:c.5069T>C	NP_000059.3:p.Phe1690Ser
NM_001127222.2:c.5051T>C MANE Select	NP_001120694.1:p.Phe1684Ser
NM_001174080.2:c.5060T>C	NP_001167551.1:p.Phe1687Ser
NM_023035.3:c.5069T>C	NP_075461.2:p.Phe1690Ser
NM_001127221.2:c.5054T>C	NP_001120693.1:p.Phe1685Ser