Linked Data
ClinVar Variation Id:
410958
dbSNP Id:
rs148152687
ExAC:
15:55722890 T / G
gnomAD v2:
15-55722890-T-G
gnomAD v3:
15-55430692-T-G
gnomAD v4:
15-55430692-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55430692T>G , CM000677.2:g.55430692T>G | GRCh38 |
| NC_000015.9:g.55722890T>G , CM000677.1:g.55722890T>G | GRCh37 |
| NC_000015.8:g.53510182T>G | NCBI36 |
| NG_021213.1:g.82543A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321149.7:c.1241A>C (DNAAF4) MANE Select | ENSP00000323275.3:p.Gln414Pro | |
| ENST00000348518.4:c.1241A>C (DNAAF4) | ENSP00000299561.5:p.Gln414Pro | |
| ENST00000448430.6:c.1047+4213A>C (DNAAF4) | ENSP00000403412.2:n.1047+4213A>C | |
| ENST00000457155.6:c.*4A>C (DNAAF4) | ENSP00000402640.2:n.*4A>C | |
| ENST00000524160.5:c.*480+1805A>C (DNAAF4) | ENSP00000428097.1:n.*480+1805A>C | |
| NM_001033559.2:c.*4A>C (DNAAF4) | NP_001028731.1:n.*4A>C | |
| NM_001033560.1:c.1047+4213A>C (DNAAF4) | NP_001028732.1:n.1047+4213A>C | |
| NM_130810.3:c.1241A>C (DNAAF4) | NP_570722.2:p.Gln414Pro | |
| NR_037923.1:n.1408+1805A>C (DNAAF4-CCPG1) | ||
| NM_130810.4:c.1241A>C (DNAAF4) MANE Select | NP_570722.2:p.Gln414Pro | |
| NM_001033559.3:c.*4A>C (DNAAF4) | NP_001028731.1:n.*4A>C | |
| NM_001033560.2:c.1047+4213A>C (DNAAF4) | NP_001028732.1:n.1047+4213A>C |