Linked Data
ClinVar Variation Id:
318598
ClinVar RCV Id:
RCV000403134
dbSNP Id:
rs45456893
gnomAD v2:
16-2390596-G-T
gnomAD v3:
16-2340595-G-T
gnomAD v4:
16-2340595-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340595G>T , CM000678.2:g.2340595G>T | GRCh38 |
| NC_000016.9:g.2390596G>T , CM000678.1:g.2390596G>T | GRCh37 |
| NC_000016.8:g.2330597G>T | NCBI36 |
| NG_011790.1:g.5152C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.-561C>A (ABCA3) MANE Select | ENSP00000301732.5:n.-561C>A | |
| ENST00000640929.1:n.42+1264G>T (ABCA17P) | ||
| ENST00000301732.9:c.-561C>A (ABCA3) | ENSP00000301732.5:n.-561C>A | |
| ENST00000382381.7:c.-561C>A (ABCA3) | ENSP00000371818.3:n.-561C>A | |
| ENST00000512848.5:n.182+1264G>T (ABCA17P) | ||
| ENST00000563623.5:n.3C>A (ABCA3) | ||
| NM_001089.2:c.-561C>A (ABCA3) | NP_001080.2:n.-561C>A | |
| NM_001089.3:c.-561C>A (ABCA3) MANE Select | NP_001080.2:n.-561C>A |