Canonical Allele Identifier: CA9240085

Gene: CACNA1A

Linked Data

• dbSNP Id: rs747714608
• ExAC: 19:13373512 T / TC
• gnomAD v2: 19-13373512-T-TC
• gnomAD v3: 19-13262698-T-TC
• gnomAD v4: 19-13262698-T-TC
• MyVariant Identifiers: chr19:g.13373513_13373514insC (hg19) ; chr19:g.13373512_13373513insC (hg19) ; chr19:g.13262698_13262699insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262705dup , CM000681.2:g.13262705dup	GRCh38
NC_000019.9:g.13373519dup , CM000681.1:g.13373519dup	GRCh37
NC_000019.8:g.13234519dup	NCBI36
NG_011569.1:g.248762dup , LRG_7:g.248762dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4089+35dup MANE Select	ENSP00000353362.5:n.4089+35dup
ENST00000573710.7:c.4095+35dup	ENSP00000460092.3:n.4095+35dup
ENST00000590205.2:n.7dup
ENST00000635727.1:c.4092+35dup	ENSP00000490001.1:n.4092+35dup
ENST00000635742.1:n.78+35dup
ENST00000635895.1:c.4092+35dup	ENSP00000490323.1:n.4092+35dup
ENST00000635917.1:n.581+35dup
ENST00000636012.1:c.4092+35dup	ENSP00000490223.1:n.4092+35dup
ENST00000636389.1:c.4092+35dup	ENSP00000489992.1:n.4092+35dup
ENST00000636549.1:c.4092+35dup	ENSP00000490578.1:n.4092+35dup
ENST00000636816.1:n.777+35dup
ENST00000637004.1:n.555+35dup
ENST00000637276.1:c.4092+35dup	ENSP00000489777.1:n.4092+35dup
ENST00000637432.1:c.4101+35dup	ENSP00000490617.1:n.4101+35dup
ENST00000637692.1:n.411+35dup
ENST00000637736.1:c.3951+35dup	ENSP00000489861.1:n.3951+35dup
ENST00000637769.1:c.4092+35dup	ENSP00000489778.1:n.4092+35dup
ENST00000637927.1:c.4095+35dup	ENSP00000489715.1:n.4095+35dup
ENST00000638009.2:c.4092+35dup	ENSP00000489913.1:n.4092+35dup
ENST00000638029.1:c.4101+35dup	ENSP00000489829.1:n.4101+35dup
ENST00000664864.1:c.4287+35dup	ENSP00000499449.1:n.4287+35dup
ENST00000360228.9:c.4089+35dup	ENSP00000353362.5:n.4089+35dup
ENST00000573710.6:c.4092+35dup	ENSP00000460092.2:n.4092+35dup
ENST00000585802.5:c.147+35dup	ENSP00000465598.1:n.147+35dup
ENST00000590205.1:n.168+35dup
ENST00000614285.4:c.4101+35dup	ENSP00000479983.1:n.4101+35dup
NM_000068.3:c.4101+35dup	NP_000059.3:n.4101+35dup
NM_001127221.1:c.4092+35dup , LRG_7t1:c.4092+35dup	NP_001120693.1:n.4092+35dup
NM_001127222.1:c.4089+35dup	NP_001120694.1:n.4089+35dup
NM_001174080.1:c.4092+35dup	NP_001167551.1:n.4092+35dup
NM_023035.2:c.4101+35dup	NP_075461.2:n.4101+35dup
NM_000068.4:c.4101+35dup	NP_000059.3:n.4101+35dup
NM_001127222.2:c.4089+35dup MANE Select	NP_001120694.1:n.4089+35dup
NM_001174080.2:c.4092+35dup	NP_001167551.1:n.4092+35dup
NM_023035.3:c.4101+35dup	NP_075461.2:n.4101+35dup
NM_001127221.2:c.4092+35dup	NP_001120693.1:n.4092+35dup