Linked Data
ClinVar Variation Id:
348842
dbSNP Id:
rs752257711
ExAC:
4:47942790 T / C
gnomAD v2:
4-47942790-T-C
gnomAD v3:
4-47940773-T-C
gnomAD v4:
4-47940773-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47940773T>C , CM000666.2:g.47940773T>C | GRCh38 |
| NC_000004.11:g.47942790T>C , CM000666.1:g.47942790T>C | GRCh37 |
| NC_000004.10:g.47637547T>C | NCBI36 |
| NG_009193.1:g.77172A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402813.9:c.642A>G (CNGA1) | ENSP00000384264.5:p.Arg214= | |
| ENST00000420489.7:c.642A>G (CNGA1) | ENSP00000389881.3:p.Arg214= | |
| ENST00000514170.7:c.642A>G (CNGA1) MANE Select | ENSP00000426862.3:p.Arg214= | |
| ENST00000358519.8:c.654A>G (CNGA1) | ENSP00000351320.4:p.Arg218= | |
| ENST00000402813.7:c.861A>G (CNGA1) | ENSP00000384264.3:p.Arg287= | |
| ENST00000420489.6:c.654A>G (CNGA1) | ENSP00000389881.2:p.Arg218= | |
| ENST00000500571.2:n.479-18251T>C (NIPAL1) | ||
| ENST00000513724.1:n.563+26069T>C (NIPAL1) | ||
| ENST00000514170.5:c.654A>G (CNGA1) | ENSP00000426862.1:p.Arg218= | |
| ENST00000544810.5:c.861A>G (CNGA1) | ENSP00000443401.2:p.Arg287= | |
| NM_000087.3:c.654A>G (CNGA1) | NP_000078.2:p.Arg218= | |
| NM_001142564.1:c.861A>G (CNGA1) | NP_001136036.1:p.Arg287= | |
| NR_125879.1:n.479-18251T>C | ||
| XM_005248049.3:c.654A>G (CNGA1) | XP_005248106.1:p.Arg218= | |
| XM_011513623.1:c.654A>G (CNGA1) | XP_011511925.1:p.Arg218= | |
| XM_005248049.4:c.879A>G (CNGA1) | XP_005248106.2:p.Arg293= | |
| XM_011513623.2:c.654A>G (CNGA1) | XP_011511925.1:p.Arg218= | |
| XM_017007712.1:c.654A>G (CNGA1) | XP_016863201.1:p.Arg218= | |
| NM_000087.4:c.654A>G (CNGA1) | NP_000078.2:p.Arg218= | |
| NM_001375386.1:c.654A>G (CNGA1) | NP_001362315.1:p.Arg218= | |
| NM_000087.5:c.642A>G (CNGA1) | NP_000078.3:p.Arg214= | |
| NM_001142564.2:c.642A>G (CNGA1) | NP_001136036.2:p.Arg214= | |
| NM_001379270.1:c.642A>G (CNGA1) MANE Select | NP_001366199.1:p.Arg214= |