Linked Data
ClinVar Variation Id:
525403
ClinVar RCV Id:
RCV000629459
dbSNP Id:
rs138945257
ExAC:
7:21940667 G / A
gnomAD v2:
7-21940667-G-A
gnomAD v3:
7-21901049-G-A
gnomAD v4:
7-21901049-G-A
COSMIC:
COSM1088461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21901049G>A , CM000669.2:g.21901049G>A | GRCh38 |
| NC_000007.13:g.21940667G>A , CM000669.1:g.21940667G>A | GRCh37 |
| NC_000007.12:g.21907192G>A | NCBI36 |
| NG_012886.2:g.362835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406877.8:c.*1273C>T (CDCA7L) MANE Select | ENSP00000383986.3:n.*1273C>T | |
| ENST00000409508.8:c.13346G>A (DNAH11) MANE Select | ENSP00000475939.1:p.Arg4449His | |
| ENST00000328843.10:c.13367G>A (DNAH11) | ENSP00000330671.7:p.Arg4456His | |
| ENST00000356195.9:c.*1273C>T (CDCA7L) | ENSP00000348523.5:n.*1273C>T | |
| ENST00000406877.7:c.*1273C>T (CDCA7L) | ENSP00000383986.3:n.*1273C>T | |
| ENST00000409508.7:c.13346G>A (DNAH11) | ENSP00000475939.1:p.Arg4449His | |
| ENST00000479878.1:n.717G>A (DNAH11) | ||
| ENST00000488845.1:n.1795C>T (CDCA7L) | ||
| ENST00000620169.4:c.13367G>A (DNAH11) | ENSP00000481693.1:p.Arg4456His | |
| NM_001127370.2:c.*1273C>T (CDCA7L) | NP_001120842.1:n.*1273C>T | |
| NM_001127371.2:c.*1273C>T (CDCA7L) | NP_001120843.1:n.*1273C>T | |
| NM_001277115.1:c.13346G>A (DNAH11) | NP_001264044.1:p.Arg4449His | |
| NM_018719.4:c.*1273C>T (CDCA7L) | NP_061189.2:n.*1273C>T | |
| NM_001277115.2:c.13346G>A (DNAH11) MANE Select | NP_001264044.1:p.Arg4449His | |
| NM_018719.5:c.*1273C>T (CDCA7L) MANE Select | NP_061189.2:n.*1273C>T | |
| NM_001127370.3:c.*1273C>T (CDCA7L) | NP_001120842.1:n.*1273C>T | |
| NM_001127371.3:c.*1273C>T (CDCA7L) | NP_001120843.1:n.*1273C>T |