Canonical Allele Identifier: CA993721463

Gene: CACNA1A

Linked Data

• dbSNP Id: rs2055669864
• gnomAD v3: 19-13231648-T-C
• gnomAD v4: 19-13231648-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231648T>C , CM000681.2:g.13231648T>C	GRCh38
NC_000019.9:g.13342462T>C , CM000681.1:g.13342462T>C	GRCh37
NC_000019.8:g.13203462T>C	NCBI36
NG_011569.1:g.279813A>G , LRG_7:g.279813A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5400+62A>G MANE Select	ENSP00000353362.5:n.5400+62A>G
ENST00000573710.7:c.5406+62A>G	ENSP00000460092.3:n.5406+62A>G
ENST00000573891.6:c.819+62A>G
ENST00000574822.6:n.624+62A>G
ENST00000585802.6:c.561+62A>G	ENSP00000465598.2:n.561+62A>G
ENST00000635727.1:c.5403+62A>G	ENSP00000490001.1:n.5403+62A>G
ENST00000635742.1:n.1389+62A>G
ENST00000635895.1:c.5403+62A>G	ENSP00000490323.1:n.5403+62A>G
ENST00000636012.1:c.5403+62A>G	ENSP00000490223.1:n.5403+62A>G
ENST00000636389.1:c.5403+62A>G	ENSP00000489992.1:n.5403+62A>G
ENST00000636473.1:c.495+62A>G	ENSP00000490173.1:n.495+62A>G
ENST00000636549.1:c.5409+62A>G	ENSP00000490578.1:n.5409+62A>G
ENST00000636768.1:c.27+62A>G	ENSP00000490190.1:n.27+62A>G
ENST00000637276.1:c.5403+62A>G	ENSP00000489777.1:n.5403+62A>G
ENST00000637432.1:c.5418+62A>G	ENSP00000490617.1:n.5418+62A>G
ENST00000637736.1:c.5262+62A>G	ENSP00000489861.1:n.5262+62A>G
ENST00000637769.1:c.5403+62A>G	ENSP00000489778.1:n.5403+62A>G
ENST00000637777.1:c.594+62A>G
ENST00000637809.1:n.793+62A>G
ENST00000637819.1:c.804+62A>G	ENSP00000490686.1:n.804+62A>G
ENST00000637832.1:n.394+62A>G
ENST00000637927.1:c.5406+62A>G	ENSP00000489715.1:n.5406+62A>G
ENST00000638009.2:c.5403+62A>G	ENSP00000489913.1:n.5403+62A>G
ENST00000638029.1:c.5418+62A>G	ENSP00000489829.1:n.5418+62A>G
ENST00000664864.1:c.5604+62A>G	ENSP00000499449.1:n.5604+62A>G
ENST00000360228.9:c.5400+62A>G	ENSP00000353362.5:n.5400+62A>G
ENST00000573710.6:c.5403+62A>G	ENSP00000460092.2:n.5403+62A>G
ENST00000574822.5:n.624+62A>G
ENST00000585802.5:c.1458+62A>G	ENSP00000465598.1:n.1458+62A>G
ENST00000587525.5:c.861+62A>G	ENSP00000467729.1:n.861+62A>G
ENST00000614285.4:c.5418+62A>G	ENSP00000479983.1:n.5418+62A>G
NM_000068.3:c.5418+62A>G	NP_000059.3:n.5418+62A>G
NM_001127221.1:c.5403+62A>G , LRG_7t1:c.5403+62A>G	NP_001120693.1:n.5403+62A>G
NM_001127222.1:c.5400+62A>G	NP_001120694.1:n.5400+62A>G
NM_001174080.1:c.5409+62A>G	NP_001167551.1:n.5409+62A>G
NM_023035.2:c.5418+62A>G	NP_075461.2:n.5418+62A>G
NM_000068.4:c.5418+62A>G	NP_000059.3:n.5418+62A>G
NM_001127222.2:c.5400+62A>G MANE Select	NP_001120694.1:n.5400+62A>G
NM_001174080.2:c.5409+62A>G	NP_001167551.1:n.5409+62A>G
NM_023035.3:c.5418+62A>G	NP_075461.2:n.5418+62A>G
NM_001127221.2:c.5403+62A>G	NP_001120693.1:n.5403+62A>G