Canonical Allele Identifier: CA115660

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 2640
• ClinVar RCV Id: RCV000002759 ; RCV000234832 ; RCV001330459 ; RCV001529627 ; RCV002281691 ; RCV002496237
• dbSNP Id: rs267606916
• ExAC: 3:132415642 G / A
• gnomAD v2: 3-132415642-G-A
• gnomAD v3: 3-132696798-G-A
• gnomAD v4: 3-132696798-G-A
• COSMIC: COSM3122114
• MyVariant Identifiers: chr3:g.132415642G>A (hg19) ; chr3:g.132696798G>A (hg38)
• PubMed: PMID:19303681 ; PMID:27336129

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132696798G>A , CM000665.2:g.132696798G>A	GRCh38
NC_000003.11:g.132415642G>A , CM000665.1:g.132415642G>A	GRCh37
NC_000003.10:g.133898332G>A	NCBI36
NG_008130.1:g.30635C>T
NG_008130.2:g.30635C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*79+462C>T (NPHP3)	ENSP00000508078.1:n.*79+462C>T
ENST00000337331.10:c.2104C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Arg702Ter
ENST00000337331.9:c.2104C>T (NPHP3)	ENSP00000338766.5:p.Arg702Ter
ENST00000465756.5:c.*79+462C>T (NPHP3)	ENSP00000419907.1:n.*79+462C>T
ENST00000471702.2:c.*95C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*95C>T
ENST00000490993.5:n.1782C>T (NPHP3)
NM_153240.4:c.2104C>T (NPHP3)	NP_694972.3:p.Arg702Ter
NR_037804.1:n.2110C>T (NPHP3-ACAD11)
NM_153240.5:c.2104C>T (NPHP3) MANE Select	NP_694972.3:p.Arg702Ter