Canonical Allele Identifier: CA2622546
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132719007A>G
GRCh37 chr3:g.132437851A>G
gnomAD v2:
3:132437851 A / G
gnomAD v3:
3:132719007 A / G
gnomAD v4:
chr3-132719007-A-G
Joint Max Group AF 0.00029477 (EAS)
Genomes Max Group AF 0.00015702 (EAS)
Exomes Max Group AF 0.00027958 (SAS)
ClinVar RCV:
RCV000595020
RCV001483236
ClinVar Variation:
501950
dbSNP:
200533815
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132719007A>G , CM000665.2:g.132719007A>G GRCh38
NC_000003.11:g.132437851A>G , CM000665.1:g.132437851A>G GRCh37
NC_000003.10:g.133920541A>G NCBI36
NG_008130.1:g.8426T>C
NG_008130.2:g.8426T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.363T>C (NPHP3) ENSP00000508078.1:p.Cys121=
ENST00000684756.1:n.380T>C (NPHP3)
ENST00000337331.10:c.657T>C (NPHP3) MANE Select ENSP00000338766.5:p.Cys219=
ENST00000337331.9:c.657T>C (NPHP3) ENSP00000338766.5:p.Cys219=
ENST00000465756.5:c.363T>C (NPHP3) ENSP00000419907.1:p.Cys121=
ENST00000469232.5:c.309T>C (NPHP3) ENSP00000418664.1:p.Cys103=
ENST00000471145.1:n.297T>C (NPHP3)
ENST00000471702.2:c.657T>C (NPHP3-ACAD11) ENSP00000419763.1:p.Cys219=
NM_153240.4:c.657T>C (NPHP3) NP_694972.3:p.Cys219=
NR_037804.1:n.761T>C (NPHP3-ACAD11)
NM_153240.5:c.657T>C (NPHP3) MANE Select NP_694972.3:p.Cys219=
Search 100 bp 5'
Search 100 bp 3'