Linked Data
ClinVar Variation Id:
2073716
ClinVar RCV Id:
RCV002972098
dbSNP Id:
rs1230212216
gnomAD v2:
15-55783303-T-C
gnomAD v3:
15-55491105-T-C
gnomAD v4:
15-55491105-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55491105T>C , CM000677.2:g.55491105T>C | GRCh38 |
| NC_000015.9:g.55783303T>C , CM000677.1:g.55783303T>C | GRCh37 |
| NC_000015.8:g.53570595T>C | NCBI36 |
| NG_021213.1:g.22130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321149.7:c.405+18A>G (DNAAF4) MANE Select | ENSP00000323275.3:n.405+18A>G | |
| ENST00000348518.4:c.405+18A>G (DNAAF4) | ENSP00000299561.5:n.405+18A>G | |
| ENST00000448430.6:c.405+18A>G (DNAAF4) | ENSP00000403412.2:n.405+18A>G | |
| ENST00000457155.6:c.405+18A>G (DNAAF4) | ENSP00000402640.2:n.405+18A>G | |
| ENST00000519017.1:n.438A>G (DNAAF4) | ||
| ENST00000522437.1:c.*215+18A>G (DNAAF4) | ENSP00000429219.1:n.*215+18A>G | |
| ENST00000524160.5:c.405+18A>G (DNAAF4) | ENSP00000428097.1:n.405+18A>G | |
| NM_001033559.2:c.405+18A>G (DNAAF4) | NP_001028731.1:n.405+18A>G | |
| NM_001033560.1:c.405+18A>G (DNAAF4) | NP_001028732.1:n.405+18A>G | |
| NM_130810.3:c.405+18A>G (DNAAF4) | NP_570722.2:n.405+18A>G | |
| NR_037923.1:n.660+18A>G (DNAAF4-CCPG1) | ||
| NM_130810.4:c.405+18A>G (DNAAF4) MANE Select | NP_570722.2:n.405+18A>G | |
| NM_001033559.3:c.405+18A>G (DNAAF4) | NP_001028731.1:n.405+18A>G | |
| NM_001033560.2:c.405+18A>G (DNAAF4) | NP_001028732.1:n.405+18A>G |