Canonical Allele Identifier: CA115652
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2633
ClinVar RCV Id: RCV000002751
dbSNP Id: rs119456960

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132713165C>G , CM000665.2:g.132713165C>G GRCh38
NC_000003.11:g.132432009C>G , CM000665.1:g.132432009C>G GRCh37
NC_000003.10:g.133914699C>G NCBI36
NG_008130.1:g.14268G>C
NG_008130.2:g.14268G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684294.1:c.785G>C (NPHP3) ENSP00000508078.1:p.Ser262Thr
ENST00000337331.10:c.1079G>C (NPHP3) MANE Select ENSP00000338766.5:p.Ser360Thr
ENST00000337331.9:c.1079G>C (NPHP3) ENSP00000338766.5:p.Ser360Thr
ENST00000465756.5:c.785G>C (NPHP3) ENSP00000419907.1:p.Ser262Thr
ENST00000469232.5:c.894G>C (NPHP3) ENSP00000418664.1:n.894G>C
ENST00000471702.2:c.1079G>C (NPHP3-ACAD11) ENSP00000419763.1:p.Ser360Thr
ENST00000476742.1:n.313G>C (NPHP3)
ENST00000490993.5:n.855G>C (NPHP3)
NM_153240.4:c.1079G>C (NPHP3) NP_694972.3:p.Ser360Thr
NR_037804.1:n.1183G>C (NPHP3-ACAD11)
NM_153240.5:c.1079G>C (NPHP3) MANE Select NP_694972.3:p.Ser360Thr