Linked Data
ClinVar Variation Id:
934602
ClinVar RCV Id:
RCV001203024
dbSNP Id:
rs766717829
ExAC:
4:47938730 A / G
gnomAD v2:
4-47938730-A-G
gnomAD v4:
4-47936713-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47936713A>G , CM000666.2:g.47936713A>G | GRCh38 |
| NC_000004.11:g.47938730A>G , CM000666.1:g.47938730A>G | GRCh37 |
| NC_000004.10:g.47633487A>G | NCBI36 |
| NG_009193.1:g.81232T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402813.9:c.1769T>C (CNGA1) | ENSP00000384264.5:p.Met590Thr | |
| ENST00000420489.7:c.1769T>C (CNGA1) | ENSP00000389881.3:p.Met590Thr | |
| ENST00000514170.7:c.1769T>C (CNGA1) MANE Select | ENSP00000426862.3:p.Met590Thr | |
| ENST00000358519.8:c.1781T>C (CNGA1) | ENSP00000351320.4:p.Met594Thr | |
| ENST00000402813.7:c.1988T>C (CNGA1) | ENSP00000384264.3:p.Met663Thr | |
| ENST00000420489.6:c.1781T>C (CNGA1) | ENSP00000389881.2:p.Met594Thr | |
| ENST00000500571.2:n.478+22009A>G (NIPAL1) | ||
| ENST00000513724.1:n.563+22009A>G (NIPAL1) | ||
| ENST00000514170.5:c.1781T>C (CNGA1) | ENSP00000426862.1:p.Met594Thr | |
| ENST00000544810.5:c.1988T>C (CNGA1) | ENSP00000443401.2:p.Met663Thr | |
| NM_000087.3:c.1781T>C (CNGA1) | NP_000078.2:p.Met594Thr | |
| NM_001142564.1:c.1988T>C (CNGA1) | NP_001136036.1:p.Met663Thr | |
| NR_125879.1:n.478+22009A>G | ||
| XM_005248049.3:c.1781T>C (CNGA1) | XP_005248106.1:p.Met594Thr | |
| XM_011513623.1:c.1781T>C (CNGA1) | XP_011511925.1:p.Met594Thr | |
| XM_005248049.4:c.2006T>C (CNGA1) | XP_005248106.2:p.Met669Thr | |
| XM_011513623.2:c.1781T>C (CNGA1) | XP_011511925.1:p.Met594Thr | |
| XM_017007712.1:c.1781T>C (CNGA1) | XP_016863201.1:p.Met594Thr | |
| NM_000087.4:c.1781T>C (CNGA1) | NP_000078.2:p.Met594Thr | |
| NM_001375386.1:c.1781T>C (CNGA1) | NP_001362315.1:p.Met594Thr | |
| NM_000087.5:c.1769T>C (CNGA1) | NP_000078.3:p.Met590Thr | |
| NM_001142564.2:c.1769T>C (CNGA1) | NP_001136036.2:p.Met590Thr | |
| NM_001379270.1:c.1769T>C (CNGA1) MANE Select | NP_001366199.1:p.Met590Thr |