Linked Data
ClinVar Variation Id:
2354779
ClinVar RCV Id:
RCV004195255
dbSNP Id:
rs756389915
ExAC:
8:66631547 G / A
gnomAD v2:
8-66631547-G-A
gnomAD v4:
8-65719312-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.65719312G>A , CM000670.2:g.65719312G>A | GRCh38 |
| NC_000008.10:g.66631547G>A , CM000670.1:g.66631547G>A | GRCh37 |
| NC_000008.9:g.66794101G>A | NCBI36 |
| NG_029614.1:g.127423C>T | |
| NG_047112.1:g.80440G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401827.8:c.1427C>T (PDE7A) MANE Select | ENSP00000385632.4:p.Pro476Leu | |
| ENST00000379419.8:c.1349C>T (PDE7A) | ENSP00000368730.4:p.Pro450Leu | |
| ENST00000401827.7:c.1427C>T (PDE7A) | ENSP00000385632.3:p.Pro476Leu | |
| ENST00000518352.1:n.206-68G>A (MTFR1) | ||
| ENST00000520398.1:n.123-68G>A (MTFR1) | ||
| ENST00000521247.6:c.382-68G>A (MTFR1) | ENSP00000429253.2:n.382-68G>A | |
| ENST00000523158.5:n.156-68G>A (MTFR1) | ||
| ENST00000527155.5:c.373+11301G>A (MTFR1) | ||
| NM_001242318.2:c.1427C>T (PDE7A) | NP_001229247.1:p.Pro476Leu | |
| NM_002603.3:c.1349C>T (PDE7A) | NP_002594.1:p.Pro450Leu | |
| XM_006716484.2:c.933+11301G>A (MTFR1) | XP_006716547.2:n.933+11301G>A | |
| XM_011517540.1:c.1349C>T (PDE7A) | XP_011515842.1:p.Pro450Leu | |
| XM_011517626.1:c.933+11301G>A (MTFR1) | XP_011515928.1:n.933+11301G>A | |
| XM_011517627.1:c.933+11301G>A (MTFR1) | XP_011515929.1:n.933+11301G>A | |
| XM_011517628.1:c.894+11301G>A (MTFR1) | XP_011515930.1:n.894+11301G>A | |
| XM_011517540.3:c.1349C>T (PDE7A) | XP_011515842.1:p.Pro450Leu | |
| XM_011517626.2:c.933+11301G>A (MTFR1) | XP_011515928.1:n.933+11301G>A | |
| XM_011517627.3:c.933+11301G>A (MTFR1) | XP_011515929.1:n.933+11301G>A | |
| XM_011517628.2:c.894+11301G>A (MTFR1) | XP_011515930.1:n.894+11301G>A | |
| XM_017013538.2:c.1325C>T (PDE7A) | XP_016869027.1:p.Pro442Leu | |
| NM_001242318.3:c.1427C>T (PDE7A) MANE Select | NP_001229247.1:p.Pro476Leu | |
| NM_002603.4:c.1349C>T (PDE7A) | NP_002594.1:p.Pro450Leu |