Linked Data
ClinVar Variation Id:
2070562
ClinVar RCV Id:
RCV002971244
dbSNP Id:
rs200707564
ExAC:
16:58557267 C / T
gnomAD v2:
16-58557267-C-T
gnomAD v3:
16-58523363-C-T
gnomAD v4:
16-58523363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58523363C>T , CM000678.2:g.58523363C>T | GRCh38 |
| NC_000016.9:g.58557267C>T , CM000678.1:g.58557267C>T | GRCh37 |
| NC_000016.8:g.57114768C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219315.9:c.*4334C>T (SETD6) MANE Select | ENSP00000219315.5:n.*4334C>T | |
| ENST00000317147.10:c.6917+7G>A (CNOT1) MANE Select | ENSP00000320949.5:n.6917+7G>A | |
| ENST00000245138.8:c.931+7G>A (CNOT1) | ENSP00000245138.5:n.931+7G>A | |
| ENST00000317147.9:c.6917+7G>A (CNOT1) | ENSP00000320949.5:n.6917+7G>A | |
| ENST00000563130.5:n.1792+7G>A (CNOT1) | ||
| ENST00000567188.5:c.*632+7G>A (CNOT1) | ENSP00000456649.1:n.*632+7G>A | |
| ENST00000569240.5:c.6902+7G>A (CNOT1) | ENSP00000455635.1:n.6902+7G>A | |
| ENST00000569924.1:n.336+7G>A (CNOT1) | ||
| NM_001265612.1:c.6902+7G>A (CNOT1) | NP_001252541.1:n.6902+7G>A | |
| NM_016284.4:c.6917+7G>A (CNOT1) | NP_057368.3:n.6917+7G>A | |
| NR_049763.1:n.7418+7G>A (CNOT1) | ||
| NM_016284.5:c.6917+7G>A (CNOT1) MANE Select | NP_057368.3:n.6917+7G>A | |
| NM_001160305.4:c.*4334C>T (SETD6) MANE Select | NP_001153777.1:n.*4334C>T | |
| NM_001265612.2:c.6902+7G>A (CNOT1) | NP_001252541.1:n.6902+7G>A | |
| NR_049763.2:n.7358+7G>A (CNOT1) |