Canonical Allele Identifier: CA9239757

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1956200
• ClinVar RCV Id: RCV002700670
• dbSNP Id: rs766934604
• ExAC: 19:13342576 T / C
• gnomAD v2: 19-13342576-T-C
• gnomAD v4: 19-13231762-T-C
• MyVariant Identifiers: chr19:g.13342576T>C (hg19) ; chr19:g.13231762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231762T>C , CM000681.2:g.13231762T>C	GRCh38
NC_000019.9:g.13342576T>C , CM000681.1:g.13342576T>C	GRCh37
NC_000019.8:g.13203576T>C	NCBI36
NG_011569.1:g.279699A>G , LRG_7:g.279699A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5348A>G MANE Select	ENSP00000353362.5:p.Asn1783Ser
ENST00000573710.7:c.5354A>G	ENSP00000460092.3:p.Asn1785Ser
ENST00000573891.6:c.767A>G
ENST00000574822.6:n.572A>G
ENST00000585802.6:c.509A>G	ENSP00000465598.2:p.Asn170Ser
ENST00000635727.1:c.5351A>G	ENSP00000490001.1:p.Asn1784Ser
ENST00000635742.1:n.1337A>G
ENST00000635895.1:c.5351A>G	ENSP00000490323.1:p.Asn1784Ser
ENST00000636012.1:c.5351A>G	ENSP00000490223.1:p.Asn1784Ser
ENST00000636389.1:c.5351A>G	ENSP00000489992.1:p.Asn1784Ser
ENST00000636473.1:c.443A>G	ENSP00000490173.1:p.Asn148Ser
ENST00000636549.1:c.5357A>G	ENSP00000490578.1:p.Asn1786Ser
ENST00000637276.1:c.5351A>G	ENSP00000489777.1:p.Asn1784Ser
ENST00000637432.1:c.5366A>G	ENSP00000490617.1:p.Asn1789Ser
ENST00000637736.1:c.5210A>G	ENSP00000489861.1:p.Asn1737Ser
ENST00000637769.1:c.5351A>G	ENSP00000489778.1:p.Asn1784Ser
ENST00000637777.1:c.542A>G
ENST00000637809.1:n.741A>G
ENST00000637819.1:c.752A>G	ENSP00000490686.1:p.Asn251Ser
ENST00000637832.1:n.342A>G
ENST00000637927.1:c.5354A>G	ENSP00000489715.1:p.Asn1785Ser
ENST00000638009.2:c.5351A>G	ENSP00000489913.1:p.Asn1784Ser
ENST00000638029.1:c.5366A>G	ENSP00000489829.1:p.Asn1789Ser
ENST00000664864.1:c.5552A>G	ENSP00000499449.1:p.Asn1851Ser
ENST00000360228.9:c.5348A>G	ENSP00000353362.5:p.Asn1783Ser
ENST00000573710.6:c.5351A>G	ENSP00000460092.2:p.Asn1784Ser
ENST00000573891.5:c.767A>G
ENST00000574822.5:n.572A>G
ENST00000585802.5:c.1406A>G	ENSP00000465598.1:p.Asn469Ser
ENST00000587525.5:c.809A>G	ENSP00000467729.1:p.Asn270Ser
ENST00000614285.4:c.5366A>G	ENSP00000479983.1:p.Asn1789Ser
NM_000068.3:c.5366A>G	NP_000059.3:p.Asn1789Ser
NM_001127221.1:c.5351A>G , LRG_7t1:c.5351A>G	NP_001120693.1:p.Asn1784Ser
NM_001127222.1:c.5348A>G	NP_001120694.1:p.Asn1783Ser
NM_001174080.1:c.5357A>G	NP_001167551.1:p.Asn1786Ser
NM_023035.2:c.5366A>G	NP_075461.2:p.Asn1789Ser
NM_000068.4:c.5366A>G	NP_000059.3:p.Asn1789Ser
NM_001127222.2:c.5348A>G MANE Select	NP_001120694.1:p.Asn1783Ser
NM_001174080.2:c.5357A>G	NP_001167551.1:p.Asn1786Ser
NM_023035.3:c.5366A>G	NP_075461.2:p.Asn1789Ser
NM_001127221.2:c.5351A>G	NP_001120693.1:p.Asn1784Ser