Linked Data
ClinVar Variation Id:
842985
dbSNP Id:
rs777774802
ExAC:
4:187130348 C / T
gnomAD v2:
4-187130348-C-T
gnomAD v3:
4-186209194-C-T
gnomAD v4:
4-186209194-C-T
COSMIC:
COSM1485882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209194C>T , CM000666.2:g.186209194C>T | GRCh38 |
| NC_000004.11:g.187130348C>T , CM000666.1:g.187130348C>T | GRCh37 |
| NC_000004.10:g.187367342C>T | NCBI36 |
| NG_007965.1:g.22675C>T | |
| NG_012095.2:g.5216C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1327C>T (CYP4V2) MANE Select | ENSP00000368079.4:p.Arg443Trp | |
| ENST00000378802.4:c.1327C>T (CYP4V2) | ENSP00000368079.4:p.Arg443Trp | |
| ENST00000502665.1:n.562C>T (CYP4V2) | ||
| ENST00000507209.5:n.6025C>T (CYP4V2) | ||
| ENST00000511608.5:c.123C>T (KLKB1) | ||
| ENST00000513354.5:n.417C>T (CYP4V2) | ||
| NM_207352.3:c.1327C>T (CYP4V2) | NP_997235.3:p.Arg443Trp | |
| XM_005262935.2:c.1324C>T (CYP4V2) | XP_005262992.1:p.Arg442Trp | |
| XM_006714184.2:c.931C>T (CYP4V2) | XP_006714247.1:p.Arg311Trp | |
| XM_005262935.4:c.1324C>T (CYP4V2) | XP_005262992.1:p.Arg442Trp | |
| XM_017008037.1:c.931C>T (CYP4V2) | XP_016863526.1:p.Arg311Trp | |
| NM_207352.4:c.1327C>T (CYP4V2) MANE Select | NP_997235.3:p.Arg443Trp |