Linked Data
ClinVar Variation Id:
225315
dbSNP Id:
rs749012133
ExAC:
4:47951883 AG / A
gnomAD v2:
4-47951883-AG-A
gnomAD v3:
4-47949866-AG-A
gnomAD v4:
4-47949866-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47949867del , CM000666.2:g.47949867del | GRCh38 |
| NC_000004.11:g.47951884del , CM000666.1:g.47951884del | GRCh37 |
| NC_000004.10:g.47646641del | NCBI36 |
| NG_009193.1:g.68078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402813.9:c.253del (CNGA1) | ENSP00000384264.5:p.Leu85PhefsTer4 | |
| ENST00000420489.7:c.253del (CNGA1) | ENSP00000389881.3:p.Leu85PhefsTer4 | |
| ENST00000504722.6:c.253del (CNGA1) | ENSP00000423721.2:p.Leu85PhefsTer4 | |
| ENST00000513178.2:c.253del (CNGA1) | ENSP00000423327.2:p.Leu85PhefsTer4 | |
| ENST00000514170.7:c.253del (CNGA1) MANE Select | ENSP00000426862.3:p.Leu85PhefsTer4 | |
| ENST00000514520.6:c.253del (CNGA1) | ENSP00000421110.2:p.Leu85PhefsTer4 | |
| ENST00000358519.8:c.265del (CNGA1) | ENSP00000351320.4:p.Leu89PhefsTer4 | |
| ENST00000402813.7:c.472del (CNGA1) | ENSP00000384264.3:p.Leu158PhefsTer4 | |
| ENST00000420489.6:c.265del (CNGA1) | ENSP00000389881.2:p.Leu89PhefsTer4 | |
| ENST00000500571.2:n.479-9157del (NIPAL1) | ||
| ENST00000504722.5:c.265del (CNGA1) | ENSP00000423721.1:p.Leu89PhefsTer4 | |
| ENST00000506118.1:n.253del (CNGA1) | ||
| ENST00000513178.1:c.265del (CNGA1) | ENSP00000423327.1:p.Leu89PhefsTer4 | |
| ENST00000513724.1:n.563+35163del (NIPAL1) | ||
| ENST00000514170.5:c.265del (CNGA1) | ENSP00000426862.1:p.Leu89PhefsTer4 | |
| ENST00000514520.5:c.265del (CNGA1) | ENSP00000421110.1:p.Leu89PhefsTer4 | |
| ENST00000544810.5:c.472del (CNGA1) | ENSP00000443401.2:p.Leu158PhefsTer4 | |
| NM_000087.3:c.265del (CNGA1) | NP_000078.2:p.Leu89PhefsTer4 | |
| NM_001142564.1:c.472del (CNGA1) | NP_001136036.1:p.Leu158PhefsTer4 | |
| NR_125879.1:n.479-9157del | ||
| XM_005248049.3:c.265del (CNGA1) | XP_005248106.1:p.Leu89PhefsTer4 | |
| XM_011513623.1:c.265del (CNGA1) | XP_011511925.1:p.Leu89PhefsTer4 | |
| XM_005248049.4:c.490del (CNGA1) | XP_005248106.2:p.Leu164PhefsTer4 | |
| XM_011513623.2:c.265del (CNGA1) | XP_011511925.1:p.Leu89PhefsTer4 | |
| XM_017007712.1:c.265del (CNGA1) | XP_016863201.1:p.Leu89PhefsTer4 | |
| NM_000087.4:c.265del (CNGA1) | NP_000078.2:p.Leu89PhefsTer4 | |
| NM_001375386.1:c.265del (CNGA1) | NP_001362315.1:p.Leu89PhefsTer4 | |
| NM_000087.5:c.253del (CNGA1) | NP_000078.3:p.Leu85PhefsTer4 | |
| NM_001142564.2:c.253del (CNGA1) | NP_001136036.2:p.Leu85PhefsTer4 | |
| NM_001379270.1:c.253del (CNGA1) MANE Select | NP_001366199.1:p.Leu85PhefsTer4 |