Canonical Allele Identifier: CA2323854302
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13359558C= , CM000681.2:g.13359558C= GRCh38
NC_000019.9:g.13470372C= , CM000681.1:g.13470372C= GRCh37
NC_000019.8:g.13331372C= NCBI36
NG_011569.1:g.151903G= , LRG_7:g.151903G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.978+48G= MANE Select ENSP00000353362.5:n.978+48G=
ENST00000573710.7:c.978+48G= ENSP00000460092.3:n.978+48G=
ENST00000593160.2:n.693+48G=
ENST00000635727.1:c.978+48G= ENSP00000490001.1:n.978+48G=
ENST00000635895.1:c.978+48G= ENSP00000490323.1:n.978+48G=
ENST00000636012.1:c.978+48G= ENSP00000490223.1:n.978+48G=
ENST00000636389.1:c.978+48G= ENSP00000489992.1:n.978+48G=
ENST00000636549.1:c.978+48G= ENSP00000490578.1:n.978+48G=
ENST00000636974.1:n.337+48G=
ENST00000637276.1:c.978+48G= ENSP00000489777.1:n.978+48G=
ENST00000637432.1:c.978+48G= ENSP00000490617.1:n.978+48G=
ENST00000637736.1:c.837+48G= ENSP00000489861.1:n.837+48G=
ENST00000637769.1:c.978+48G= ENSP00000489778.1:n.978+48G=
ENST00000637927.1:c.978+48G= ENSP00000489715.1:n.978+48G=
ENST00000637966.1:n.831+48G=
ENST00000638009.2:c.978+48G= ENSP00000489913.1:n.978+48G=
ENST00000638029.1:c.978+48G= ENSP00000489829.1:n.978+48G=
ENST00000664864.1:c.1173+48G= ENSP00000499449.1:n.1173+48G=
ENST00000360228.9:c.978+48G= ENSP00000353362.5:n.978+48G=
ENST00000573710.6:c.978+48G= ENSP00000460092.2:n.978+48G=
ENST00000593160.1:n.198+48G=
ENST00000614285.4:c.978+48G= ENSP00000479983.1:n.978+48G=
NM_000068.3:c.978+48G= NP_000059.3:n.978+48G=
NM_001127221.1:c.978+48G= , LRG_7t1:c.978+48G= NP_001120693.1:n.978+48G=
NM_001127222.1:c.978+48G= NP_001120694.1:n.978+48G=
NM_001174080.1:c.978+48G= NP_001167551.1:n.978+48G=
NM_023035.2:c.978+48G= NP_075461.2:n.978+48G=
NM_000068.4:c.978+48G= NP_000059.3:n.978+48G=
NM_001127222.2:c.978+48G= MANE Select NP_001120694.1:n.978+48G=
NM_001174080.2:c.978+48G= NP_001167551.1:n.978+48G=
NM_023035.3:c.978+48G= NP_075461.2:n.978+48G=
NM_001127221.2:c.978+48G= NP_001120693.1:n.978+48G=