Linked Data
ClinVar Variation Id:
348844
dbSNP Id:
rs539600817
ExAC:
4:47945286 C / T
gnomAD v2:
4-47945286-C-T
gnomAD v3:
4-47943269-C-T
gnomAD v4:
4-47943269-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47943269C>T , CM000666.2:g.47943269C>T | GRCh38 |
| NC_000004.11:g.47945286C>T , CM000666.1:g.47945286C>T | GRCh37 |
| NC_000004.10:g.47640043C>T | NCBI36 |
| NG_009193.1:g.74676G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402813.9:c.349G>A (CNGA1) | ENSP00000384264.5:p.Glu117Lys | |
| ENST00000420489.7:c.349G>A (CNGA1) | ENSP00000389881.3:p.Glu117Lys | |
| ENST00000504722.6:c.349G>A (CNGA1) | ENSP00000423721.2:p.Glu117Lys | |
| ENST00000514170.7:c.349G>A (CNGA1) MANE Select | ENSP00000426862.3:p.Glu117Lys | |
| ENST00000358519.8:c.361G>A (CNGA1) | ENSP00000351320.4:p.Glu121Lys | |
| ENST00000402813.7:c.568G>A (CNGA1) | ENSP00000384264.3:p.Glu190Lys | |
| ENST00000420489.6:c.361G>A (CNGA1) | ENSP00000389881.2:p.Glu121Lys | |
| ENST00000500571.2:n.479-15755C>T (NIPAL1) | ||
| ENST00000504722.5:c.361G>A (CNGA1) | ENSP00000423721.1:p.Glu121Lys | |
| ENST00000506118.1:n.349G>A (CNGA1) | ||
| ENST00000513724.1:n.563+28565C>T (NIPAL1) | ||
| ENST00000514170.5:c.361G>A (CNGA1) | ENSP00000426862.1:p.Glu121Lys | |
| ENST00000544810.5:c.568G>A (CNGA1) | ENSP00000443401.2:p.Glu190Lys | |
| NM_000087.3:c.361G>A (CNGA1) | NP_000078.2:p.Glu121Lys | |
| NM_001142564.1:c.568G>A (CNGA1) | NP_001136036.1:p.Glu190Lys | |
| NR_125879.1:n.479-15755C>T | ||
| XM_005248049.3:c.361G>A (CNGA1) | XP_005248106.1:p.Glu121Lys | |
| XM_011513623.1:c.361G>A (CNGA1) | XP_011511925.1:p.Glu121Lys | |
| XM_005248049.4:c.586G>A (CNGA1) | XP_005248106.2:p.Glu196Lys | |
| XM_011513623.2:c.361G>A (CNGA1) | XP_011511925.1:p.Glu121Lys | |
| XM_017007712.1:c.361G>A (CNGA1) | XP_016863201.1:p.Glu121Lys | |
| NM_000087.4:c.361G>A (CNGA1) | NP_000078.2:p.Glu121Lys | |
| NM_001375386.1:c.361G>A (CNGA1) | NP_001362315.1:p.Glu121Lys | |
| NM_000087.5:c.349G>A (CNGA1) | NP_000078.3:p.Glu117Lys | |
| NM_001142564.2:c.349G>A (CNGA1) | NP_001136036.2:p.Glu117Lys | |
| NM_001379270.1:c.349G>A (CNGA1) MANE Select | NP_001366199.1:p.Glu117Lys |