Linked Data
ClinVar Variation Id:
344236
ClinVar RCV Id:
RCV000373331
dbSNP Id:
rs755506263
gnomAD v3:
3-180614130-G-A
gnomAD v4:
3-180614130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180614130G>A , CM000665.2:g.180614130G>A | GRCh38 |
| NC_000003.11:g.180331918G>A , CM000665.1:g.180331918G>A | GRCh37 |
| NC_000003.10:g.181814612G>A | NCBI36 |
| NG_029581.1:g.70366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.*791C>T (CCDC39) MANE Select | ENSP00000417960.2:n.*791C>T | |
| ENST00000489868.6:c.186-266C>T (CCDC39) | ENSP00000420025.1:n.186-266C>T | |
| ENST00000651046.1:c.*791C>T (CCDC39) | ENSP00000499175.1:n.*791C>T | |
| ENST00000652010.1:n.3693C>T (CCDC39) | ||
| ENST00000382584.8:c.1775-3250G>A (TTC14) | ENSP00000372027.4:n.1775-3250G>A | |
| ENST00000473854.5:c.303-266C>T | ||
| ENST00000476379.5:c.*1441C>T | ENSP00000417960.1:n.*1441C>T | |
| ENST00000489868.5:c.186-266C>T | ENSP00000420025.1:n.186-266C>T | |
| NM_001288582.1:c.1775-3250G>A (TTC14) | NP_001275511.1:n.1775-3250G>A | |
| NM_181426.1:c.*791C>T (CCDC39) | NP_852091.1:n.*791C>T | |
| NM_181426.2:c.*791C>T (CCDC39) MANE Select | NP_852091.1:n.*791C>T | |
| NM_001288582.2:c.1775-3250G>A (TTC14) | NP_001275511.1:n.1775-3250G>A |