Linked Data
ClinVar Variation Id:
318599
ClinVar RCV Id:
RCV000287062
dbSNP Id:
rs886051838
gnomAD v2:
16-2390604-G-A
gnomAD v3:
16-2340603-G-A
gnomAD v4:
16-2340603-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340603G>A , CM000678.2:g.2340603G>A | GRCh38 |
| NC_000016.9:g.2390604G>A , CM000678.1:g.2390604G>A | GRCh37 |
| NC_000016.8:g.2330605G>A | NCBI36 |
| NG_011790.1:g.5144C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.-569C>T (ABCA3) MANE Select | ENSP00000301732.5:n.-569C>T | |
| ENST00000640929.1:n.42+1272G>A (ABCA17P) | ||
| ENST00000301732.9:c.-569C>T (ABCA3) | ENSP00000301732.5:n.-569C>T | |
| ENST00000382381.7:c.-569C>T (ABCA3) | ENSP00000371818.3:n.-569C>T | |
| ENST00000512848.5:n.182+1272G>A (ABCA17P) | ||
| NM_001089.2:c.-569C>T (ABCA3) | NP_001080.2:n.-569C>T | |
| NM_001089.3:c.-569C>T (ABCA3) MANE Select | NP_001080.2:n.-569C>T |