Linked Data
ClinVar Variation Id:
714677
ClinVar RCV Id:
RCV000887027
dbSNP Id:
rs8045850
ExAC:
16:789693 C / T
gnomAD v2:
16-789693-C-T
gnomAD v3:
16-739693-C-T
gnomAD v4:
16-739693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.739693C>T , CM000678.2:g.739693C>T | GRCh38 |
| NC_000016.9:g.789693C>T , CM000678.1:g.789693C>T | GRCh37 |
| NC_000016.8:g.729694C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251588.7:c.112G>A (CIAO3) MANE Select | ENSP00000251588.2:p.Val38Met | |
| ENST00000251588.6:c.112G>A (CIAO3) | ENSP00000251588.2:p.Val38Met | |
| ENST00000540986.5:c.-195G>A (CIAO3) | ENSP00000444008.1:n.-195G>A | |
| ENST00000562752.5:n.124G>A (CIAO3) | ||
| ENST00000565065.5:c.194G>A (CIAO3) | ENSP00000455543.1:p.Arg65His | |
| ENST00000565341.5:n.124G>A (CIAO3) | ||
| ENST00000565425.5:c.112G>A (CIAO3) | ENSP00000456497.1:p.Val38Met | |
| ENST00000565693.6:n.111+13G>A (CIAO3) | ||
| ENST00000566614.5:c.-195G>A (CIAO3) | ENSP00000459523.1:n.-195G>A | |
| ENST00000567172.1:n.124G>A (CIAO3) | ||
| ENST00000567455.5:n.124G>A (CIAO3) | ||
| ENST00000570066.1:c.112G>A (CIAO3) | ENSP00000457609.1:p.Val38Met | |
| ENST00000570289.5:c.112G>A (CIAO3) | ENSP00000455514.1:p.Val38Met | |
| ENST00000620831.4:c.-49-22939C>T (MSLN) | ENSP00000482893.1:n.-49-22939C>T | |
| NM_001304799.1:c.-195G>A (CIAO3) | NP_001291728.1:n.-195G>A | |
| NM_022493.2:c.112G>A (CIAO3) | NP_071938.1:p.Val38Met | |
| NM_022493.3:c.112G>A (CIAO3) MANE Select | NP_071938.1:p.Val38Met | |
| NM_001304799.2:c.-195G>A (CIAO3) | NP_001291728.1:n.-195G>A |