Canonical Allele Identifier: CA245719

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 197514
• ClinVar RCV Id: RCV000178567 ; RCV000816451
• dbSNP Id: rs779044548
• ExAC: 19:13320254 C / T
• gnomAD v2: 19-13320254-C-T
• gnomAD v3: 19-13209440-C-T
• gnomAD v4: 19-13209440-C-T
• MyVariant Identifiers: chr19:g.13320254C>T (hg19) ; chr19:g.13209440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13209440C>T , CM000681.2:g.13209440C>T	GRCh38
NC_000019.9:g.13320254C>T , CM000681.1:g.13320254C>T	GRCh37
NC_000019.8:g.13181254C>T	NCBI36
NG_011569.1:g.302021G>A , LRG_7:g.302021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.6398G>A MANE Select	ENSP00000353362.5:p.Arg2133Gln
ENST00000573710.7:c.6404G>A	ENSP00000460092.3:p.Arg2135Gln
ENST00000585802.6:c.1523G>A	ENSP00000465598.2:p.Arg508Gln
ENST00000635727.1:c.6401G>A	ENSP00000490001.1:p.Arg2134Gln
ENST00000635895.1:c.6401G>A	ENSP00000490323.1:p.Arg2134Gln
ENST00000636012.1:c.6365G>A	ENSP00000490223.1:p.Arg2122Gln
ENST00000636389.1:c.6401G>A	ENSP00000489992.1:p.Arg2134Gln
ENST00000636473.1:c.1268G>A	ENSP00000490173.1:p.Arg423Gln
ENST00000636549.1:c.6407G>A	ENSP00000490578.1:p.Arg2136Gln
ENST00000636610.1:n.2765G>A
ENST00000636768.1:c.892G>A	ENSP00000490190.1:n.892G>A
ENST00000637276.1:c.6365G>A	ENSP00000489777.1:p.Arg2122Gln
ENST00000637432.1:c.6416G>A	ENSP00000490617.1:p.Arg2139Gln
ENST00000637736.1:c.6260G>A	ENSP00000489861.1:p.Arg2087Gln
ENST00000637769.1:c.6401G>A	ENSP00000489778.1:p.Arg2134Gln
ENST00000637927.1:c.6404G>A	ENSP00000489715.1:p.Arg2135Gln
ENST00000638009.2:c.6401G>A	ENSP00000489913.1:p.Arg2134Gln
ENST00000638029.1:c.6416G>A	ENSP00000489829.1:p.Arg2139Gln
ENST00000664864.1:c.6602G>A	ENSP00000499449.1:p.Arg2201Gln
ENST00000360228.9:c.6398G>A	ENSP00000353362.5:p.Arg2133Gln
ENST00000573710.6:c.6401G>A	ENSP00000460092.2:p.Arg2134Gln
ENST00000585802.5:c.2420G>A	ENSP00000465598.1:p.Arg807Gln
ENST00000587525.5:c.1823G>A	ENSP00000467729.1:p.Arg608Gln
ENST00000614285.4:c.6416G>A	ENSP00000479983.1:p.Arg2139Gln
NM_000068.3:c.6416G>A	NP_000059.3:p.Arg2139Gln
NM_001127221.1:c.6401G>A , LRG_7t1:c.6401G>A	NP_001120693.1:p.Arg2134Gln
NM_001127222.1:c.6398G>A	NP_001120694.1:p.Arg2133Gln
NM_001174080.1:c.6407G>A	NP_001167551.1:p.Arg2136Gln
NM_023035.2:c.6416G>A	NP_075461.2:p.Arg2139Gln
NM_000068.4:c.6416G>A	NP_000059.3:p.Arg2139Gln
NM_001127222.2:c.6398G>A MANE Select	NP_001120694.1:p.Arg2133Gln
NM_001174080.2:c.6407G>A	NP_001167551.1:p.Arg2136Gln
NM_023035.3:c.6416G>A	NP_075461.2:p.Arg2139Gln
NM_001127221.2:c.6401G>A	NP_001120693.1:p.Arg2134Gln