Canonical Allele Identifier: CA2621863
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132688766A>G
GRCh37 chr3:g.132407610A>G
gnomAD v2:
3:132407610 A / G
gnomAD v3:
3:132688766 A / G
gnomAD v4:
chr3-132688766-A-G
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 8.4e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132688766A>G , CM000665.2:g.132688766A>G GRCh38
NC_000003.11:g.132407610A>G , CM000665.1:g.132407610A>G GRCh37
NC_000003.10:g.133890300A>G NCBI36
NG_008130.1:g.38667T>C
NG_008130.2:g.38667T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*917T>C (NPHP3) ENSP00000508078.1:n.*917T>C
ENST00000337331.10:c.3009T>C (NPHP3) MANE Select ENSP00000338766.5:p.Asn1003=
ENST00000337331.9:c.3009T>C (NPHP3) ENSP00000338766.5:p.Asn1003=
ENST00000465756.5:c.*917T>C (NPHP3) ENSP00000419907.1:n.*917T>C
ENST00000471702.2:c.*1000T>C (NPHP3-ACAD11) ENSP00000419763.1:n.*1000T>C
ENST00000474871.5:n.743T>C (NPHP3)
ENST00000490993.5:n.3734T>C (NPHP3)
NM_153240.4:c.3009T>C (NPHP3) NP_694972.3:p.Asn1003=
NR_037804.1:n.3015T>C (NPHP3-ACAD11)
NM_153240.5:c.3009T>C (NPHP3) MANE Select NP_694972.3:p.Asn1003=
Search 100 bp 5'
Search 100 bp 3'