Linked Data
ClinVar Variation Id:
16932
ClinVar RCV Id:
RCV000018440
RCV000778730
RCV001073687
RCV000787817
RCV000787818
RCV001059719
RCV001197999
RCV002504802
dbSNP Id:
rs62625014
ExAC:
4:47939552 G / A
gnomAD v2:
4-47939552-G-A
gnomAD v3:
4-47937535-G-A
gnomAD v4:
4-47937535-G-A
PubMed:
PMID:7479749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47937535G>A , CM000666.2:g.47937535G>A | GRCh38 |
| NC_000004.11:g.47939552G>A , CM000666.1:g.47939552G>A | GRCh37 |
| NC_000004.10:g.47634309G>A | NCBI36 |
| NG_009193.1:g.80410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402813.9:c.947C>T (CNGA1) | ENSP00000384264.5:p.Ser316Phe | |
| ENST00000420489.7:c.947C>T (CNGA1) | ENSP00000389881.3:p.Ser316Phe | |
| ENST00000514170.7:c.947C>T (CNGA1) MANE Select | ENSP00000426862.3:p.Ser316Phe | |
| ENST00000358519.8:c.959C>T (CNGA1) | ENSP00000351320.4:p.Ser320Phe | |
| ENST00000402813.7:c.1166C>T (CNGA1) | ENSP00000384264.3:p.Ser389Phe | |
| ENST00000420489.6:c.959C>T (CNGA1) | ENSP00000389881.2:p.Ser320Phe | |
| ENST00000500571.2:n.479-21489G>A (NIPAL1) | ||
| ENST00000513724.1:n.563+22831G>A (NIPAL1) | ||
| ENST00000514170.5:c.959C>T (CNGA1) | ENSP00000426862.1:p.Ser320Phe | |
| ENST00000544810.5:c.1166C>T (CNGA1) | ENSP00000443401.2:p.Ser389Phe | |
| NM_000087.3:c.959C>T (CNGA1) | NP_000078.2:p.Ser320Phe | |
| NM_001142564.1:c.1166C>T (CNGA1) | NP_001136036.1:p.Ser389Phe | |
| NR_125879.1:n.479-21489G>A | ||
| XM_005248049.3:c.959C>T (CNGA1) | XP_005248106.1:p.Ser320Phe | |
| XM_011513623.1:c.959C>T (CNGA1) | XP_011511925.1:p.Ser320Phe | |
| XM_005248049.4:c.1184C>T (CNGA1) | XP_005248106.2:p.Ser395Phe | |
| XM_011513623.2:c.959C>T (CNGA1) | XP_011511925.1:p.Ser320Phe | |
| XM_017007712.1:c.959C>T (CNGA1) | XP_016863201.1:p.Ser320Phe | |
| NM_000087.4:c.959C>T (CNGA1) | NP_000078.2:p.Ser320Phe | |
| NM_001375386.1:c.959C>T (CNGA1) | NP_001362315.1:p.Ser320Phe | |
| NM_000087.5:c.947C>T (CNGA1) | NP_000078.3:p.Ser316Phe | |
| NM_001142564.2:c.947C>T (CNGA1) | NP_001136036.2:p.Ser316Phe | |
| NM_001379270.1:c.947C>T (CNGA1) MANE Select | NP_001366199.1:p.Ser316Phe |