Canonical Allele Identifier: CA2621752
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132684725G>A
GRCh37 chr3:g.132403569G>A
gnomAD v2:
3:132403569 G / A
gnomAD v3:
3:132684725 G / A
gnomAD v4:
chr3-132684725-G-A
Joint Max Group AF 0.00001803 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001663 (NFE)
ClinVar Allele:
1625706
ClinVar RCV:
RCV002139400
RCV002486912
RCV004543841
ClinVar Variation:
1606566
dbSNP:
766231228
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132684725G>A , CM000665.2:g.132684725G>A GRCh38
NC_000003.11:g.132403569G>A , CM000665.1:g.132403569G>A GRCh37
NC_000003.10:g.133886259G>A NCBI36
NG_008130.1:g.42708C>T
NG_008130.2:g.42708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*1307C>T (NPHP3) ENSP00000508078.1:n.*1307C>T
ENST00000337331.10:c.3399C>T (NPHP3) MANE Select ENSP00000338766.5:p.Asp1133=
ENST00000337331.9:c.3399C>T (NPHP3) ENSP00000338766.5:p.Asp1133=
ENST00000465756.5:c.*1307C>T (NPHP3) ENSP00000419907.1:n.*1307C>T
ENST00000471702.2:c.*1390C>T (NPHP3-ACAD11) ENSP00000419763.1:n.*1390C>T
ENST00000474871.5:n.2598C>T (NPHP3)
ENST00000490993.5:n.4124C>T (NPHP3)
ENST00000493732.5:n.99C>T (NPHP3)
ENST00000632629.1:c.46C>T (NPHP3-ACAD11)
NM_153240.4:c.3399C>T (NPHP3) NP_694972.3:p.Asp1133=
NR_037804.1:n.3405C>T (NPHP3-ACAD11)
NM_153240.5:c.3399C>T (NPHP3) MANE Select NP_694972.3:p.Asp1133=
Search 100 bp 5'
Search 100 bp 3'