Linked Data
ClinVar Variation Id:
1003403
ClinVar RCV Id:
RCV001299951
dbSNP Id:
rs777818344
ExAC:
4:47939304 T / C
gnomAD v2:
4-47939304-T-C
gnomAD v3:
4-47937287-T-C
gnomAD v4:
4-47937287-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47937287T>C , CM000666.2:g.47937287T>C | GRCh38 |
| NC_000004.11:g.47939304T>C , CM000666.1:g.47939304T>C | GRCh37 |
| NC_000004.10:g.47634061T>C | NCBI36 |
| NG_009193.1:g.80658A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402813.9:c.1195A>G (CNGA1) | ENSP00000384264.5:p.Met399Val | |
| ENST00000420489.7:c.1195A>G (CNGA1) | ENSP00000389881.3:p.Met399Val | |
| ENST00000514170.7:c.1195A>G (CNGA1) MANE Select | ENSP00000426862.3:p.Met399Val | |
| ENST00000358519.8:c.1207A>G (CNGA1) | ENSP00000351320.4:p.Met403Val | |
| ENST00000402813.7:c.1414A>G (CNGA1) | ENSP00000384264.3:p.Met472Val | |
| ENST00000420489.6:c.1207A>G (CNGA1) | ENSP00000389881.2:p.Met403Val | |
| ENST00000500571.2:n.479-21737T>C (NIPAL1) | ||
| ENST00000513724.1:n.563+22583T>C (NIPAL1) | ||
| ENST00000514170.5:c.1207A>G (CNGA1) | ENSP00000426862.1:p.Met403Val | |
| ENST00000544810.5:c.1414A>G (CNGA1) | ENSP00000443401.2:p.Met472Val | |
| NM_000087.3:c.1207A>G (CNGA1) | NP_000078.2:p.Met403Val | |
| NM_001142564.1:c.1414A>G (CNGA1) | NP_001136036.1:p.Met472Val | |
| NR_125879.1:n.479-21737T>C | ||
| XM_005248049.3:c.1207A>G (CNGA1) | XP_005248106.1:p.Met403Val | |
| XM_011513623.1:c.1207A>G (CNGA1) | XP_011511925.1:p.Met403Val | |
| XM_005248049.4:c.1432A>G (CNGA1) | XP_005248106.2:p.Met478Val | |
| XM_011513623.2:c.1207A>G (CNGA1) | XP_011511925.1:p.Met403Val | |
| XM_017007712.1:c.1207A>G (CNGA1) | XP_016863201.1:p.Met403Val | |
| NM_000087.4:c.1207A>G (CNGA1) | NP_000078.2:p.Met403Val | |
| NM_001375386.1:c.1207A>G (CNGA1) | NP_001362315.1:p.Met403Val | |
| NM_000087.5:c.1195A>G (CNGA1) | NP_000078.3:p.Met399Val | |
| NM_001142564.2:c.1195A>G (CNGA1) | NP_001136036.2:p.Met399Val | |
| NM_001379270.1:c.1195A>G (CNGA1) MANE Select | NP_001366199.1:p.Met399Val |