Canonical Allele Identifier: CA2621718
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132684545C>A
GRCh37 chr3:g.132403389C>A
gnomAD v2:
3:132403389 C / A
gnomAD v3:
3:132684545 C / A
gnomAD v4:
chr3-132684545-C-A
Joint Max Group AF 0.00433866 (AFR)
Genomes Max Group AF 0.00327273 (AFR)
Exomes Max Group AF 0.0052964 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132684545C>A , CM000665.2:g.132684545C>A GRCh38
NC_000003.11:g.132403389C>A , CM000665.1:g.132403389C>A GRCh37
NC_000003.10:g.133886079C>A NCBI36
NG_008130.1:g.42888G>T
NG_008130.2:g.42888G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*1478+9G>T (NPHP3) ENSP00000508078.1:n.*1478+9G>T
ENST00000337331.10:c.3570+9G>T (NPHP3) MANE Select ENSP00000338766.5:n.3570+9G>T
ENST00000337331.9:c.3570+9G>T (NPHP3) ENSP00000338766.5:n.3570+9G>T
ENST00000465756.5:c.*1478+9G>T (NPHP3) ENSP00000419907.1:n.*1478+9G>T
ENST00000471702.2:c.*1561+9G>T (NPHP3-ACAD11) ENSP00000419763.1:n.*1561+9G>T
ENST00000474871.5:n.2769+9G>T (NPHP3)
ENST00000490993.5:n.4295+9G>T (NPHP3)
ENST00000493732.5:n.270+9G>T (NPHP3)
ENST00000512094.5:c.132+9G>T (NPHP3) ENSP00000427666.1:n.132+9G>T
ENST00000632629.1:c.217+9G>T (NPHP3-ACAD11)
NM_153240.4:c.3570+9G>T (NPHP3) NP_694972.3:n.3570+9G>T
NR_037804.1:n.3576+9G>T (NPHP3-ACAD11)
NM_153240.5:c.3570+9G>T (NPHP3) MANE Select NP_694972.3:n.3570+9G>T
Search 100 bp 5'
Search 100 bp 3'