Linked Data
ClinVar Variation Id:
1063017
ClinVar RCV Id:
RCV001372809
dbSNP Id:
rs1165799316
gnomAD v2:
4-47938980-C-G
gnomAD v4:
4-47936963-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47936963C>G , CM000666.2:g.47936963C>G | GRCh38 |
| NC_000004.11:g.47938980C>G , CM000666.1:g.47938980C>G | GRCh37 |
| NC_000004.10:g.47633737C>G | NCBI36 |
| NG_009193.1:g.80982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402813.9:c.1519G>C (CNGA1) | ENSP00000384264.5:p.Asp507His | |
| ENST00000420489.7:c.1519G>C (CNGA1) | ENSP00000389881.3:p.Asp507His | |
| ENST00000514170.7:c.1519G>C (CNGA1) MANE Select | ENSP00000426862.3:p.Asp507His | |
| ENST00000358519.8:c.1531G>C (CNGA1) | ENSP00000351320.4:p.Asp511His | |
| ENST00000402813.7:c.1738G>C (CNGA1) | ENSP00000384264.3:p.Asp580His | |
| ENST00000420489.6:c.1531G>C (CNGA1) | ENSP00000389881.2:p.Asp511His | |
| ENST00000500571.2:n.479-22061C>G (NIPAL1) | ||
| ENST00000513724.1:n.563+22259C>G (NIPAL1) | ||
| ENST00000514170.5:c.1531G>C (CNGA1) | ENSP00000426862.1:p.Asp511His | |
| ENST00000544810.5:c.1738G>C (CNGA1) | ENSP00000443401.2:p.Asp580His | |
| NM_000087.3:c.1531G>C (CNGA1) | NP_000078.2:p.Asp511His | |
| NM_001142564.1:c.1738G>C (CNGA1) | NP_001136036.1:p.Asp580His | |
| NR_125879.1:n.479-22061C>G | ||
| XM_005248049.3:c.1531G>C (CNGA1) | XP_005248106.1:p.Asp511His | |
| XM_011513623.1:c.1531G>C (CNGA1) | XP_011511925.1:p.Asp511His | |
| XM_005248049.4:c.1756G>C (CNGA1) | XP_005248106.2:p.Asp586His | |
| XM_011513623.2:c.1531G>C (CNGA1) | XP_011511925.1:p.Asp511His | |
| XM_017007712.1:c.1531G>C (CNGA1) | XP_016863201.1:p.Asp511His | |
| NM_000087.4:c.1531G>C (CNGA1) | NP_000078.2:p.Asp511His | |
| NM_001375386.1:c.1531G>C (CNGA1) | NP_001362315.1:p.Asp511His | |
| NM_000087.5:c.1519G>C (CNGA1) | NP_000078.3:p.Asp507His | |
| NM_001142564.2:c.1519G>C (CNGA1) | NP_001136036.2:p.Asp507His | |
| NM_001379270.1:c.1519G>C (CNGA1) MANE Select | NP_001366199.1:p.Asp507His |