Linked Data
ClinVar Variation Id:
344259
ClinVar RCV Id:
RCV000405697
dbSNP Id:
rs886058197
gnomAD v4:
3-180614947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180614947C>T , CM000665.2:g.180614947C>T | GRCh38 |
| NC_000003.11:g.180332735C>T , CM000665.1:g.180332735C>T | GRCh37 |
| NC_000003.10:g.181815429C>T | NCBI36 |
| NG_029581.1:g.69549G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.2800G>A (CCDC39) MANE Select | ENSP00000417960.2:p.Val934Ile | |
| ENST00000489868.6:c.186-1083G>A (CCDC39) | ENSP00000420025.1:n.186-1083G>A | |
| ENST00000651046.1:c.2608G>A (CCDC39) | ENSP00000499175.1:p.Val870Ile | |
| ENST00000651922.1:n.2125G>A (CCDC39) | ||
| ENST00000652010.1:n.2876G>A (CCDC39) | ||
| ENST00000382584.8:c.1775-2433C>T (TTC14) | ENSP00000372027.4:n.1775-2433C>T | |
| ENST00000442201.6:c.2800G>A | ENSP00000405708.2:p.Val934Ile | |
| ENST00000473854.5:c.302+49G>A | ||
| ENST00000476379.5:c.*624G>A | ENSP00000417960.1:n.*624G>A | |
| ENST00000489868.5:c.186-1083G>A | ENSP00000420025.1:n.186-1083G>A | |
| NM_001288582.1:c.1775-2433C>T (TTC14) | NP_001275511.1:n.1775-2433C>T | |
| NM_181426.1:c.2800G>A (CCDC39) | NP_852091.1:p.Val934Ile | |
| NM_181426.2:c.2800G>A (CCDC39) MANE Select | NP_852091.1:p.Val934Ile | |
| NM_001288582.2:c.1775-2433C>T (TTC14) | NP_001275511.1:n.1775-2433C>T |