Linked Data
ClinVar Variation Id:
344250
ClinVar RCV Id:
RCV000371579
dbSNP Id:
rs59016311
gnomAD v2:
3-180332210-T-G
gnomAD v3:
3-180614422-T-G
gnomAD v4:
3-180614422-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180614422T>G , CM000665.2:g.180614422T>G | GRCh38 |
| NC_000003.11:g.180332210T>G , CM000665.1:g.180332210T>G | GRCh37 |
| NC_000003.10:g.181814904T>G | NCBI36 |
| NG_029581.1:g.70074A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.*499A>C (CCDC39) MANE Select | ENSP00000417960.2:n.*499A>C | |
| ENST00000489868.6:c.186-558A>C (CCDC39) | ENSP00000420025.1:n.186-558A>C | |
| ENST00000651046.1:c.*499A>C (CCDC39) | ENSP00000499175.1:n.*499A>C | |
| ENST00000651922.1:n.2650A>C (CCDC39) | ||
| ENST00000652010.1:n.3401A>C (CCDC39) | ||
| ENST00000382584.8:c.1775-2958T>G (TTC14) | ENSP00000372027.4:n.1775-2958T>G | |
| ENST00000473854.5:c.303-558A>C | ||
| ENST00000476379.5:c.*1149A>C | ENSP00000417960.1:n.*1149A>C | |
| ENST00000489868.5:c.186-558A>C | ENSP00000420025.1:n.186-558A>C | |
| NM_001288582.1:c.1775-2958T>G (TTC14) | NP_001275511.1:n.1775-2958T>G | |
| NM_181426.1:c.*499A>C (CCDC39) | NP_852091.1:n.*499A>C | |
| NM_181426.2:c.*499A>C (CCDC39) MANE Select | NP_852091.1:n.*499A>C | |
| NM_001288582.2:c.1775-2958T>G (TTC14) | NP_001275511.1:n.1775-2958T>G |