Linked Data
ClinVar Variation Id:
348319
dbSNP Id:
rs7697077
gnomAD v2:
4-187132159-T-G
gnomAD v3:
4-186211005-T-G
gnomAD v4:
4-186211005-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186211005T>G , CM000666.2:g.186211005T>G | GRCh38 |
| NC_000004.11:g.187132159T>G , CM000666.1:g.187132159T>G | GRCh37 |
| NC_000004.10:g.187369153T>G | NCBI36 |
| NG_007965.1:g.24486T>G | |
| NG_012095.2:g.7027T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.*364T>G (CYP4V2) MANE Select | ENSP00000368079.4:n.*364T>G | |
| ENST00000502665.1:n.1177T>G (CYP4V2) | ||
| ENST00000507209.5:n.6640T>G (CYP4V2) | ||
| ENST00000511608.5:c.201+1733T>G (KLKB1) | ||
| ENST00000513354.5:n.1032T>G (CYP4V2) | ||
| NM_207352.3:c.*364T>G (CYP4V2) | NP_997235.3:n.*364T>G | |
| XM_005262935.2:c.*364T>G (CYP4V2) | XP_005262992.1:n.*364T>G | |
| XM_006714184.2:c.*364T>G (CYP4V2) | XP_006714247.1:n.*364T>G | |
| XM_011531931.1:c.-3704T>G (KLKB1) | XP_011530233.1:n.-3704T>G | |
| XM_011531932.1:c.-3954T>G (KLKB1) | XP_011530234.1:n.-3954T>G | |
| XM_011531933.1:c.-3768T>G (KLKB1) | XP_011530235.1:n.-3768T>G | |
| XM_005262935.4:c.*364T>G (CYP4V2) | XP_005262992.1:n.*364T>G | |
| XM_017008037.1:c.*364T>G (CYP4V2) | XP_016863526.1:n.*364T>G | |
| NM_207352.4:c.*364T>G (CYP4V2) MANE Select | NP_997235.3:n.*364T>G |