Linked Data
gnomAD v4:
3-132684703-G-A
COSMIC:
COSM1038495
MyVariant Identifiers:
chr3:g.132403547G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132684703G>A , CM000665.2:g.132684703G>A | GRCh38 |
| NC_000003.11:g.132403547G>A , CM000665.1:g.132403547G>A | GRCh37 |
| NC_000003.10:g.133886237G>A | NCBI36 |
| NG_008130.1:g.42730C>T | |
| NG_008130.2:g.42730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684294.1:c.*1329C>T (NPHP3) | ENSP00000508078.1:n.*1329C>T | |
| ENST00000337331.10:c.3421C>T (NPHP3) MANE Select | ENSP00000338766.5:p.Leu1141= | |
| ENST00000337331.9:c.3421C>T (NPHP3) | ENSP00000338766.5:p.Leu1141= | |
| ENST00000465756.5:c.*1329C>T (NPHP3) | ENSP00000419907.1:n.*1329C>T | |
| ENST00000471702.2:c.*1412C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*1412C>T | |
| ENST00000474871.5:n.2620C>T (NPHP3) | ||
| ENST00000490993.5:n.4146C>T (NPHP3) | ||
| ENST00000493732.5:n.121C>T (NPHP3) | ||
| ENST00000632629.1:c.68C>T (NPHP3-ACAD11) | ||
| NM_153240.4:c.3421C>T (NPHP3) | NP_694972.3:p.Leu1141= | |
| NR_037804.1:n.3427C>T (NPHP3-ACAD11) | ||
| NM_153240.5:c.3421C>T (NPHP3) MANE Select | NP_694972.3:p.Leu1141= |