Linked Data
ClinVar Variation Id:
1280260
ClinVar RCV Id:
RCV001695412
dbSNP Id:
rs1075938
gnomAD v2:
15-55790691-G-A
gnomAD v3:
15-55498493-G-A
gnomAD v4:
15-55498493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55498493G>A , CM000677.2:g.55498493G>A | GRCh38 |
| NC_000015.9:g.55790691G>A , CM000677.1:g.55790691G>A | GRCh37 |
| NC_000015.8:g.53577983G>A | NCBI36 |
| NG_021213.1:g.14742C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321149.7:c.-164C>T (DNAAF4) MANE Select | ENSP00000323275.3:n.-164C>T | |
| ENST00000348518.4:c.-164C>T (DNAAF4) | ENSP00000299561.5:n.-164C>T | |
| NM_001033559.2:c.-164C>T (DNAAF4) | NP_001028731.1:n.-164C>T | |
| NM_001033560.1:c.-164C>T (DNAAF4) | NP_001028732.1:n.-164C>T | |
| NM_130810.3:c.-164C>T (DNAAF4) | NP_570722.2:n.-164C>T | |
| NR_037923.1:n.92C>T (DNAAF4-CCPG1) | ||
| NM_130810.4:c.-164C>T (DNAAF4) MANE Select | NP_570722.2:n.-164C>T | |
| NM_001033559.3:c.-164C>T (DNAAF4) | NP_001028731.1:n.-164C>T | |
| NM_001033560.2:c.-164C>T (DNAAF4) | NP_001028732.1:n.-164C>T |