Canonical Allele Identifier: CA2621740

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 281413
• ClinVar RCV Id: RCV000343363 ; RCV001553649 ; RCV001859546 ; RCV002494815 ; RCV003236581
• dbSNP Id: rs138630766
• ExAC: 3:132403474 C / T
• gnomAD v2: 3-132403474-C-T
• gnomAD v3: 3-132684630-C-T
• gnomAD v4: 3-132684630-C-T
• MyVariant Identifiers: chr3:g.132403474C>T (hg19) ; chr3:g.132684630C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684630C>T , CM000665.2:g.132684630C>T	GRCh38
NC_000003.11:g.132403474C>T , CM000665.1:g.132403474C>T	GRCh37
NC_000003.10:g.133886164C>T	NCBI36
NG_008130.1:g.42803G>A
NG_008130.2:g.42803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1402G>A (NPHP3)	ENSP00000508078.1:n.*1402G>A
ENST00000337331.10:c.3494G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Arg1165Gln
ENST00000337331.9:c.3494G>A (NPHP3)	ENSP00000338766.5:p.Arg1165Gln
ENST00000465756.5:c.*1402G>A (NPHP3)	ENSP00000419907.1:n.*1402G>A
ENST00000471702.2:c.*1485G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1485G>A
ENST00000474871.5:n.2693G>A (NPHP3)
ENST00000490993.5:n.4219G>A (NPHP3)
ENST00000493732.5:n.194G>A (NPHP3)
ENST00000512094.5:c.56G>A (NPHP3)	ENSP00000427666.1:p.Arg19Gln
ENST00000632629.1:c.141G>A (NPHP3-ACAD11)
NM_153240.4:c.3494G>A (NPHP3)	NP_694972.3:p.Arg1165Gln
NR_037804.1:n.3500G>A (NPHP3-ACAD11)
NM_153240.5:c.3494G>A (NPHP3) MANE Select	NP_694972.3:p.Arg1165Gln