Canonical Allele Identifier: CA16620787

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 421023
• ClinVar RCV Id: RCV000486810 ; RCV003766687
• dbSNP Id: rs1064794858
• gnomAD v4: 19-13262781-G-A
• COSMIC: COSM1390761 ; COSM1390762 ; COSM1390763 ; COSM1390764
• MyVariant Identifiers: chr19:g.13373595G>A (hg19) ; chr19:g.13262781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262781G>A , CM000681.2:g.13262781G>A	GRCh38
NC_000019.9:g.13373595G>A , CM000681.1:g.13373595G>A	GRCh37
NC_000019.8:g.13234595G>A	NCBI36
NG_011569.1:g.248680C>T , LRG_7:g.248680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4042C>T MANE Select	ENSP00000353362.5:p.Arg1348Trp
ENST00000573710.7:c.4048C>T	ENSP00000460092.3:p.Arg1350Trp
ENST00000635727.1:c.4045C>T	ENSP00000490001.1:p.Arg1349Trp
ENST00000635742.1:n.31C>T
ENST00000635895.1:c.4045C>T	ENSP00000490323.1:p.Arg1349Trp
ENST00000635917.1:n.534C>T
ENST00000636012.1:c.4045C>T	ENSP00000490223.1:p.Arg1349Trp
ENST00000636389.1:c.4045C>T	ENSP00000489992.1:p.Arg1349Trp
ENST00000636549.1:c.4045C>T	ENSP00000490578.1:p.Arg1349Trp
ENST00000636816.1:n.730C>T
ENST00000637004.1:n.508C>T
ENST00000637276.1:c.4045C>T	ENSP00000489777.1:p.Arg1349Trp
ENST00000637432.1:c.4054C>T	ENSP00000490617.1:p.Arg1352Trp
ENST00000637692.1:n.364C>T
ENST00000637736.1:c.3904C>T	ENSP00000489861.1:p.Arg1302Trp
ENST00000637769.1:c.4045C>T	ENSP00000489778.1:p.Arg1349Trp
ENST00000637927.1:c.4048C>T	ENSP00000489715.1:p.Arg1350Trp
ENST00000638009.2:c.4045C>T	ENSP00000489913.1:p.Arg1349Trp
ENST00000638029.1:c.4054C>T	ENSP00000489829.1:p.Arg1352Trp
ENST00000664864.1:c.4240C>T	ENSP00000499449.1:p.Arg1414Trp
ENST00000360228.9:c.4042C>T	ENSP00000353362.5:p.Arg1348Trp
ENST00000573710.6:c.4045C>T	ENSP00000460092.2:p.Arg1349Trp
ENST00000585802.5:c.100C>T	ENSP00000465598.1:p.Arg34Trp
ENST00000590205.1:n.121C>T
ENST00000614285.4:c.4054C>T	ENSP00000479983.1:p.Arg1352Trp
NM_000068.3:c.4054C>T	NP_000059.3:p.Arg1352Trp
NM_001127221.1:c.4045C>T , LRG_7t1:c.4045C>T	NP_001120693.1:p.Arg1349Trp
NM_001127222.1:c.4042C>T	NP_001120694.1:p.Arg1348Trp
NM_001174080.1:c.4045C>T	NP_001167551.1:p.Arg1349Trp
NM_023035.2:c.4054C>T	NP_075461.2:p.Arg1352Trp
NM_000068.4:c.4054C>T	NP_000059.3:p.Arg1352Trp
NM_001127222.2:c.4042C>T MANE Select	NP_001120694.1:p.Arg1348Trp
NM_001174080.2:c.4045C>T	NP_001167551.1:p.Arg1349Trp
NM_023035.3:c.4054C>T	NP_075461.2:p.Arg1352Trp
NM_001127221.2:c.4045C>T	NP_001120693.1:p.Arg1349Trp