Linked Data
ClinVar Variation Id:
359699
dbSNP Id:
rs200609513
ExAC:
7:21940720 G / A
gnomAD v2:
7-21940720-G-A
gnomAD v3:
7-21901102-G-A
gnomAD v4:
7-21901102-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21901102G>A , CM000669.2:g.21901102G>A | GRCh38 |
| NC_000007.13:g.21940720G>A , CM000669.1:g.21940720G>A | GRCh37 |
| NC_000007.12:g.21907245G>A | NCBI36 |
| NG_012886.2:g.362888G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406877.8:c.*1220C>T (CDCA7L) MANE Select | ENSP00000383986.3:n.*1220C>T | |
| ENST00000409508.8:c.13399G>A (DNAH11) MANE Select | ENSP00000475939.1:p.Val4467Met | |
| ENST00000328843.10:c.13420G>A (DNAH11) | ENSP00000330671.7:p.Val4474Met | |
| ENST00000356195.9:c.*1220C>T (CDCA7L) | ENSP00000348523.5:n.*1220C>T | |
| ENST00000406877.7:c.*1220C>T (CDCA7L) | ENSP00000383986.3:n.*1220C>T | |
| ENST00000409508.7:c.13399G>A (DNAH11) | ENSP00000475939.1:p.Val4467Met | |
| ENST00000479878.1:n.770G>A (DNAH11) | ||
| ENST00000488845.1:n.1742C>T (CDCA7L) | ||
| ENST00000620169.4:c.13420G>A (DNAH11) | ENSP00000481693.1:p.Val4474Met | |
| NM_001127370.2:c.*1220C>T (CDCA7L) | NP_001120842.1:n.*1220C>T | |
| NM_001127371.2:c.*1220C>T (CDCA7L) | NP_001120843.1:n.*1220C>T | |
| NM_001277115.1:c.13399G>A (DNAH11) | NP_001264044.1:p.Val4467Met | |
| NM_018719.4:c.*1220C>T (CDCA7L) | NP_061189.2:n.*1220C>T | |
| NM_001277115.2:c.13399G>A (DNAH11) MANE Select | NP_001264044.1:p.Val4467Met | |
| NM_018719.5:c.*1220C>T (CDCA7L) MANE Select | NP_061189.2:n.*1220C>T | |
| NM_001127370.3:c.*1220C>T (CDCA7L) | NP_001120842.1:n.*1220C>T | |
| NM_001127371.3:c.*1220C>T (CDCA7L) | NP_001120843.1:n.*1220C>T |