Canonical Allele Identifier: CA207387
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132696822G>A
GRCh37 chr3:g.132415666G>A
gnomAD v2:
3:132415666 G / A
gnomAD v3:
3:132696822 G / A
gnomAD v4:
chr3-132696822-G-A
Joint Max Group AF 0.0050316 (NFE)
Genomes Max Group AF 0.00475737 (NFE)
Exomes Max Group AF 0.00502476 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132696822G>A , CM000665.2:g.132696822G>A GRCh38
NC_000003.11:g.132415666G>A , CM000665.1:g.132415666G>A GRCh37
NC_000003.10:g.133898356G>A NCBI36
NG_008130.1:g.30611C>T
NG_008130.2:g.30611C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*79+438C>T (NPHP3) ENSP00000508078.1:n.*79+438C>T
ENST00000337331.10:c.2089-9C>T (NPHP3) MANE Select ENSP00000338766.5:n.2089-9C>T
ENST00000337331.9:c.2089-9C>T (NPHP3) ENSP00000338766.5:n.2089-9C>T
ENST00000465756.5:c.*79+438C>T (NPHP3) ENSP00000419907.1:n.*79+438C>T
ENST00000471702.2:c.*80-9C>T (NPHP3-ACAD11) ENSP00000419763.1:n.*80-9C>T
ENST00000490993.5:n.1767-9C>T (NPHP3)
NM_153240.4:c.2089-9C>T (NPHP3) NP_694972.3:n.2089-9C>T
NR_037804.1:n.2095-9C>T (NPHP3-ACAD11)
NM_153240.5:c.2089-9C>T (NPHP3) MANE Select NP_694972.3:n.2089-9C>T
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