Linked Data
ClinVar Variation Id:
1271024
ClinVar RCV Id:
RCV001680545
dbSNP Id:
rs62059718
gnomAD v2:
17-48638215-G-A
gnomAD v3:
17-50560854-G-A
gnomAD v4:
17-50560854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50560854G>A , CM000679.2:g.50560854G>A | GRCh38 |
| NC_000017.10:g.48638215G>A , CM000679.1:g.48638215G>A | GRCh37 |
| NC_000017.9:g.45993214G>A | NCBI36 |
| NG_032024.1:g.4787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359106.10:c.-606G>A (CACNA1G) MANE Select | ENSP00000352011.5:n.-606G>A | |
| NR_038439.1:n.181+1074C>T (CACNA1G-AS1) | ||
| NM_018896.5:c.-606G>A (CACNA1G) MANE Select | NP_061496.2:n.-606G>A | |
| NM_001256324.2:c.-606G>A (CACNA1G) | NP_001243253.1:n.-606G>A | |
| NM_001256325.2:c.-606G>A (CACNA1G) | NP_001243254.1:n.-606G>A | |
| NM_001256326.2:c.-606G>A (CACNA1G) | NP_001243255.1:n.-606G>A | |
| NM_001256327.2:c.-606G>A (CACNA1G) | NP_001243256.1:n.-606G>A | |
| NM_001256328.2:c.-606G>A (CACNA1G) | NP_001243257.1:n.-606G>A | |
| NM_001256329.2:c.-606G>A (CACNA1G) | NP_001243258.1:n.-606G>A | |
| NM_001256330.2:c.-606G>A (CACNA1G) | NP_001243259.1:n.-606G>A | |
| NM_001256331.2:c.-606G>A (CACNA1G) | NP_001243260.1:n.-606G>A | |
| NM_001256332.2:c.-606G>A (CACNA1G) | NP_001243261.1:n.-606G>A | |
| NM_001256333.2:c.-606G>A (CACNA1G) | NP_001243262.1:n.-606G>A | |
| NM_001256334.2:c.-606G>A (CACNA1G) | NP_001243263.1:n.-606G>A | |
| NM_001256359.2:c.-606G>A (CACNA1G) | NP_001243288.1:n.-606G>A | |
| NM_001256360.2:c.-606G>A (CACNA1G) | NP_001243289.1:n.-606G>A | |
| NM_001256361.2:c.-606G>A (CACNA1G) | NP_001243290.1:n.-606G>A | |
| NM_198376.3:c.-606G>A (CACNA1G) | NP_938190.1:n.-606G>A | |
| NM_198377.3:c.-606G>A (CACNA1G) | NP_938191.2:n.-606G>A | |
| NM_198378.3:c.-606G>A (CACNA1G) | NP_938192.1:n.-606G>A | |
| NM_198379.3:c.-606G>A (CACNA1G) | NP_938193.1:n.-606G>A | |
| NM_198380.3:c.-606G>A (CACNA1G) | NP_938194.1:n.-606G>A | |
| NM_198383.3:c.-606G>A (CACNA1G) | NP_938197.1:n.-606G>A | |
| NM_198384.3:c.-606G>A (CACNA1G) | NP_938198.1:n.-606G>A | |
| NM_198385.3:c.-606G>A (CACNA1G) | NP_938199.1:n.-606G>A | |
| NM_198386.3:c.-606G>A (CACNA1G) | NP_938200.1:n.-606G>A | |
| NM_198387.3:c.-606G>A (CACNA1G) | NP_938201.1:n.-606G>A | |
| NM_198388.3:c.-606G>A (CACNA1G) | NP_938202.1:n.-606G>A | |
| NR_046054.2:n.140G>A (CACNA1G) | ||
| NR_046055.2:n.140G>A (CACNA1G) | ||
| NR_046056.2:n.140G>A (CACNA1G) | ||
| NR_046057.2:n.140G>A (CACNA1G) | ||
| NR_046058.2:n.140G>A (CACNA1G) | ||
| NM_198382.3:c.-606G>A (CACNA1G) | NP_938196.1:n.-606G>A | |
| NM_198396.3:c.-606G>A (CACNA1G) | NP_938406.1:n.-606G>A |