Linked Data
ClinVar Variation Id:
2038554
ClinVar RCV Id:
RCV002907648
dbSNP Id:
rs747710403
gnomAD v3:
4-186210522-C-A
gnomAD v4:
4-186210522-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186210522C>A , CM000666.2:g.186210522C>A | GRCh38 |
| NC_000004.11:g.187131676C>A , CM000666.1:g.187131676C>A | GRCh37 |
| NC_000004.10:g.187368670C>A | NCBI36 |
| NG_007965.1:g.24003C>A | |
| NG_012095.2:g.6544C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1459C>A (CYP4V2) MANE Select | ENSP00000368079.4:p.His487Asn | |
| ENST00000378802.4:c.1459C>A (CYP4V2) | ENSP00000368079.4:p.His487Asn | |
| ENST00000502665.1:n.694C>A (CYP4V2) | ||
| ENST00000507209.5:n.6157C>A (CYP4V2) | ||
| ENST00000511608.5:c.201+1250C>A (KLKB1) | ||
| ENST00000513354.5:n.549C>A (CYP4V2) | ||
| NM_207352.3:c.1459C>A (CYP4V2) | NP_997235.3:p.His487Asn | |
| XM_005262935.2:c.1456C>A (CYP4V2) | XP_005262992.1:p.His486Asn | |
| XM_006714184.2:c.1063C>A (CYP4V2) | XP_006714247.1:p.His355Asn | |
| XM_005262935.4:c.1456C>A (CYP4V2) | XP_005262992.1:p.His486Asn | |
| XM_017008037.1:c.1063C>A (CYP4V2) | XP_016863526.1:p.His355Asn | |
| NM_207352.4:c.1459C>A (CYP4V2) MANE Select | NP_997235.3:p.His487Asn |