Linked Data
dbSNP Id:
rs11437160
gnomAD v3:
4-186209380-T-TAA
gnomAD v4:
4-186209380-T-TAA
MyVariant Identifiers:
chr4:g.187130534_187130535insAA (hg19)
chr4:g.186209380_186209381insAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209389_186209390dup , CM000666.2:g.186209389_186209390dup | GRCh38 |
| NC_000004.11:g.187130543_187130544dup , CM000666.1:g.187130543_187130544dup | GRCh37 |
| NC_000004.10:g.187367537_187367538dup | NCBI36 |
| NG_007965.1:g.22870_22871dup | |
| NG_012095.2:g.5411_5412dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1405+117_1405+118dup (CYP4V2) MANE Select | ENSP00000368079.4:n.1405+117_1405+118dup | |
| ENST00000378802.4:c.1405+117_1405+118dup (CYP4V2) | ENSP00000368079.4:n.1405+117_1405+118dup | |
| ENST00000502665.1:n.640+117_640+118dup (CYP4V2) | ||
| ENST00000507209.5:n.6103+117_6103+118dup (CYP4V2) | ||
| ENST00000511608.5:c.201+117_201+118dup (KLKB1) | ||
| ENST00000513354.5:n.495+117_495+118dup (CYP4V2) | ||
| NM_207352.3:c.1405+117_1405+118dup (CYP4V2) | NP_997235.3:n.1405+117_1405+118dup | |
| XM_005262935.2:c.1402+117_1402+118dup (CYP4V2) | XP_005262992.1:n.1402+117_1402+118dup | |
| XM_006714184.2:c.1009+117_1009+118dup (CYP4V2) | XP_006714247.1:n.1009+117_1009+118dup | |
| XM_005262935.4:c.1402+117_1402+118dup (CYP4V2) | XP_005262992.1:n.1402+117_1402+118dup | |
| XM_017008037.1:c.1009+117_1009+118dup (CYP4V2) | XP_016863526.1:n.1009+117_1009+118dup | |
| NM_207352.4:c.1405+117_1405+118dup (CYP4V2) MANE Select | NP_997235.3:n.1405+117_1405+118dup |