Linked Data
ClinVar Variation Id:
318603
ClinVar RCV Id:
RCV000366316
dbSNP Id:
rs45451291
gnomAD v2:
16-2390706-A-T
gnomAD v3:
16-2340705-A-T
gnomAD v4:
16-2340705-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340705A>T , CM000678.2:g.2340705A>T | GRCh38 |
| NC_000016.9:g.2390706A>T , CM000678.1:g.2390706A>T | GRCh37 |
| NC_000016.8:g.2330707A>T | NCBI36 |
| NG_011790.1:g.5042T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.-671T>A (ABCA3) MANE Select | ENSP00000301732.5:n.-671T>A | |
| ENST00000640929.1:n.42+1374A>T (ABCA17P) | ||
| ENST00000301732.9:c.-671T>A (ABCA3) | ENSP00000301732.5:n.-671T>A | |
| ENST00000382381.7:c.-671T>A (ABCA3) | ENSP00000371818.3:n.-671T>A | |
| ENST00000512848.5:n.182+1374A>T (ABCA17P) | ||
| NM_001089.2:c.-671T>A (ABCA3) | NP_001080.2:n.-671T>A | |
| NM_001089.3:c.-671T>A (ABCA3) MANE Select | NP_001080.2:n.-671T>A |