Linked Data
ClinVar Variation Id:
1943280
ClinVar RCV Id:
RCV002670824
dbSNP Id:
rs981205438
gnomAD v2:
16-19079009-C-T
gnomAD v3:
16-19067687-C-T
gnomAD v4:
16-19067687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.19067687C>T , CM000678.2:g.19067687C>T | GRCh38 |
| NC_000016.9:g.19079009C>T , CM000678.1:g.19079009C>T | GRCh37 |
| NC_000016.8:g.18986510C>T | NCBI36 |
| NG_046596.1:g.5093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321998.10:c.23C>T (COQ7) MANE Select | ENSP00000322316.5:p.Ala8Val | |
| ENST00000321998.9:c.23C>T (COQ7) | ENSP00000322316.5:p.Ala8Val | |
| ENST00000564746.1:n.42C>T (COQ7) | ||
| ENST00000566049.5:c.23C>T (COQ7) | ENSP00000456490.1:p.Ala8Val | |
| ENST00000566110.5:c.-236C>T (COQ7) | ENSP00000456943.1:n.-236C>T | |
| ENST00000568985.5:c.23C>T (COQ7) | ENSP00000456734.1:p.Ala8Val | |
| ENST00000569312.5:c.23C>T (COQ7) | ENSP00000459076.1:p.Ala8Val | |
| NM_016138.4:c.23C>T (COQ7) | NP_057222.2:p.Ala8Val | |
| NR_119379.1:n.5G>A (COQ7-DT) | ||
| NR_119380.1:n.5G>A (COQ7-DT) | ||
| NR_119381.1:n.5G>A (COQ7-DT) | ||
| XR_950722.1:n.93C>T (COQ7) | ||
| XR_950722.3:n.93C>T (COQ7) | ||
| NM_016138.5:c.23C>T (COQ7) MANE Select | NP_057222.2:p.Ala8Val | |
| NM_001370490.1:c.23C>T (COQ7) | NP_001357419.1:p.Ala8Val | |
| NR_163448.1:n.74C>T (COQ7) | ||
| NR_163450.1:n.74C>T (COQ7) |