Canonical Allele Identifier: CA783430728

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1209023340
• gnomAD v3: 19-13235836-C-A
• gnomAD v4: 19-13235836-C-A
• MyVariant Identifiers: chr19:g.13346650C>A (hg19) ; chr19:g.13235836C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235836C>A , CM000681.2:g.13235836C>A	GRCh38
NC_000019.9:g.13346650C>A , CM000681.1:g.13346650C>A	GRCh37
NC_000019.8:g.13207650C>A	NCBI36
NG_011569.1:g.275625G>T , LRG_7:g.275625G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4951-106G>T MANE Select	ENSP00000353362.5:n.4951-106G>T
ENST00000573710.7:c.4957-106G>T	ENSP00000460092.3:n.4957-106G>T
ENST00000573891.6:c.370-106G>T
ENST00000574822.6:n.175-106G>T
ENST00000585802.6:c.112-106G>T	ENSP00000465598.2:n.112-106G>T
ENST00000593267.2:n.50G>T
ENST00000635727.1:c.4954-106G>T	ENSP00000490001.1:n.4954-106G>T
ENST00000635742.1:n.940-106G>T
ENST00000635895.1:c.4954-106G>T	ENSP00000490323.1:n.4954-106G>T
ENST00000636012.1:c.4954-106G>T	ENSP00000490223.1:n.4954-106G>T
ENST00000636058.1:c.266-106G>T
ENST00000636389.1:c.4954-106G>T	ENSP00000489992.1:n.4954-106G>T
ENST00000636473.1:c.112-106G>T	ENSP00000490173.1:n.112-106G>T
ENST00000636549.1:c.4960-106G>T	ENSP00000490578.1:n.4960-106G>T
ENST00000637276.1:c.4954-106G>T	ENSP00000489777.1:n.4954-106G>T
ENST00000637297.1:c.247-106G>T	ENSP00000489692.1:n.247-106G>T
ENST00000637432.1:c.4969-106G>T	ENSP00000490617.1:n.4969-106G>T
ENST00000637736.1:c.4813-106G>T	ENSP00000489861.1:n.4813-106G>T
ENST00000637769.1:c.4954-106G>T	ENSP00000489778.1:n.4954-106G>T
ENST00000637777.1:c.211-106G>T
ENST00000637809.1:n.344-106G>T
ENST00000637819.1:c.355-106G>T	ENSP00000490686.1:n.355-106G>T
ENST00000637927.1:c.4957-106G>T	ENSP00000489715.1:n.4957-106G>T
ENST00000638009.2:c.4954-106G>T	ENSP00000489913.1:n.4954-106G>T
ENST00000638029.1:c.4969-106G>T	ENSP00000489829.1:n.4969-106G>T
ENST00000664864.1:c.5155-106G>T	ENSP00000499449.1:n.5155-106G>T
ENST00000360228.9:c.4951-106G>T	ENSP00000353362.5:n.4951-106G>T
ENST00000573710.6:c.4954-106G>T	ENSP00000460092.2:n.4954-106G>T
ENST00000573891.5:c.370-106G>T
ENST00000574822.5:n.175-106G>T
ENST00000585802.5:c.1009-106G>T	ENSP00000465598.1:n.1009-106G>T
ENST00000587525.5:c.412-106G>T	ENSP00000467729.1:n.412-106G>T
ENST00000593267.1:n.50G>T
ENST00000614285.4:c.4969-106G>T	ENSP00000479983.1:n.4969-106G>T
NM_000068.3:c.4969-106G>T	NP_000059.3:n.4969-106G>T
NM_001127221.1:c.4954-106G>T , LRG_7t1:c.4954-106G>T	NP_001120693.1:n.4954-106G>T
NM_001127222.1:c.4951-106G>T	NP_001120694.1:n.4951-106G>T
NM_001174080.1:c.4960-106G>T	NP_001167551.1:n.4960-106G>T
NM_023035.2:c.4969-106G>T	NP_075461.2:n.4969-106G>T
NM_000068.4:c.4969-106G>T	NP_000059.3:n.4969-106G>T
NM_001127222.2:c.4951-106G>T MANE Select	NP_001120694.1:n.4951-106G>T
NM_001174080.2:c.4960-106G>T	NP_001167551.1:n.4960-106G>T
NM_023035.3:c.4969-106G>T	NP_075461.2:n.4969-106G>T
NM_001127221.2:c.4954-106G>T	NP_001120693.1:n.4954-106G>T