Linked Data
ClinVar Variation Id:
402506
ClinVar RCV Id:
RCV000454951
dbSNP Id:
rs746815273
gnomAD v3:
14-99510485-G-C
gnomAD v4:
14-99510485-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99510485G>C , CM000676.2:g.99510485G>C | GRCh38 |
| NC_000014.8:g.99976822G>C , CM000676.1:g.99976822G>C | GRCh37 |
| NC_000014.7:g.99046575G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380243.9:c.*4761C>G (CCDC85C) MANE Select | ENSP00000369592.4:n.*4761C>G | |
| ENST00000380243.8:c.*4761C>G (CCDC85C) | ENSP00000369592.4:n.*4761C>G | |
| ENST00000389879.9:c.1446G>C (CCNK) MANE Select | ENSP00000374529.5:p.Pro482= | |
| ENST00000553865.1:n.4598G>C (CCNK) | ||
| ENST00000555049.5:c.1117+3338G>C (CCNK) | ENSP00000452307.1:n.1117+3338G>C | |
| NM_001099402.1:c.1446G>C (CCNK) | NP_001092872.1:p.Pro482= | |
| XM_005268154.3:c.1446G>C (CCNK) | XP_005268211.1:p.Pro482= | |
| XM_011537275.1:c.1446G>C (CCNK) | XP_011535577.1:p.Pro482= | |
| XM_005268154.4:c.1446G>C (CCNK) | XP_005268211.1:p.Pro482= | |
| XM_011537275.2:c.1446G>C (CCNK) | XP_011535577.1:p.Pro482= | |
| NM_001144995.2:c.*4761C>G (CCDC85C) MANE Select | NP_001138467.1:n.*4761C>G | |
| NM_001099402.2:c.1446G>C (CCNK) MANE Select | NP_001092872.1:p.Pro482= |