Linked Data
dbSNP Id:
rs763333652
gnomAD v2:
4-187132668-A-AT
gnomAD v3:
4-186211514-A-AT
gnomAD v4:
4-186211514-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186211515dup , CM000666.2:g.186211515dup | GRCh38 |
| NC_000004.11:g.187132669dup , CM000666.1:g.187132669dup | GRCh37 |
| NC_000004.10:g.187369663dup | NCBI36 |
| NG_007965.1:g.24996dup | |
| NG_012095.2:g.7537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.*874dup (CYP4V2) MANE Select | ENSP00000368079.4:n.*874dup | |
| ENST00000502665.1:n.1687dup (CYP4V2) | ||
| ENST00000507209.5:n.7150dup (CYP4V2) | ||
| ENST00000511608.5:c.201+2243dup (KLKB1) | ||
| NM_207352.3:c.*874dup (CYP4V2) | NP_997235.3:n.*874dup | |
| XM_005262935.2:c.*874dup (CYP4V2) | XP_005262992.1:n.*874dup | |
| XM_006714184.2:c.*874dup (CYP4V2) | XP_006714247.1:n.*874dup | |
| XM_011531931.1:c.-3194dup (KLKB1) | XP_011530233.1:n.-3194dup | |
| XM_011531932.1:c.-3444dup (KLKB1) | XP_011530234.1:n.-3444dup | |
| XM_011531933.1:c.-3258dup (KLKB1) | XP_011530235.1:n.-3258dup | |
| XM_005262935.4:c.*874dup (CYP4V2) | XP_005262992.1:n.*874dup | |
| XM_017008037.1:c.*874dup (CYP4V2) | XP_016863526.1:n.*874dup | |
| NM_207352.4:c.*874dup (CYP4V2) MANE Select | NP_997235.3:n.*874dup |