Canonical Allele Identifier: CA2621852
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132688712C>T
GRCh37 chr3:g.132407556C>T
gnomAD v2:
3:132407556 C / T
gnomAD v3:
3:132688712 C / T
gnomAD v4:
chr3-132688712-C-T
Joint Max Group AF 0.00002555 (NFE)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00002625 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132688712C>T , CM000665.2:g.132688712C>T GRCh38
NC_000003.11:g.132407556C>T , CM000665.1:g.132407556C>T GRCh37
NC_000003.10:g.133890246C>T NCBI36
NG_008130.1:g.38721G>A
NG_008130.2:g.38721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*971G>A (NPHP3) ENSP00000508078.1:n.*971G>A
ENST00000337331.10:c.3063G>A (NPHP3) MANE Select ENSP00000338766.5:p.Ala1021=
ENST00000337331.9:c.3063G>A (NPHP3) ENSP00000338766.5:p.Ala1021=
ENST00000465756.5:c.*971G>A (NPHP3) ENSP00000419907.1:n.*971G>A
ENST00000471702.2:c.*1054G>A (NPHP3-ACAD11) ENSP00000419763.1:n.*1054G>A
ENST00000474871.5:n.797G>A (NPHP3)
ENST00000490993.5:n.3788G>A (NPHP3)
NM_153240.4:c.3063G>A (NPHP3) NP_694972.3:p.Ala1021=
NR_037804.1:n.3069G>A (NPHP3-ACAD11)
NM_153240.5:c.3063G>A (NPHP3) MANE Select NP_694972.3:p.Ala1021=
Search 100 bp 5'
Search 100 bp 3'