Canonical Allele Identifier: CA2622655

Gene: NPHP3 NPHP3-ACAD11 NPHP3-AS1

Linked Data

• ClinVar Variation Id: 343392
• ClinVar RCV Id: RCV000294973 ; RCV000317438 ; RCV000372111 ; RCV001850822 ; RCV002488742
• dbSNP Id: rs200233813
• ExAC: 3:132440868 G / A
• gnomAD v2: 3-132440868-G-A
• gnomAD v3: 3-132722024-G-A
• gnomAD v4: 3-132722024-G-A
• COSMIC: COSM1259387 ; COSM5040233
• MyVariant Identifiers: chr3:g.132440868G>A (hg19) ; chr3:g.132440868_132440871delinsAACA (hg19) ; chr3:g.132722024G>A (hg38) ; chr3:g.132722024_132722027delinsAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132722024G>A , CM000665.2:g.132722024G>A	GRCh38
NC_000003.11:g.132440868G>A , CM000665.1:g.132440868G>A	GRCh37
NC_000003.10:g.133923558G>A	NCBI36
NG_008130.1:g.5409C>T
NG_008130.2:g.5409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683570.1:c.332C>T (NPHP3)	ENSP00000508409.1:p.Ser111Phe
ENST00000684294.1:c.99+233C>T (NPHP3)	ENSP00000508078.1:n.99+233C>T
ENST00000684756.1:n.55C>T (NPHP3)
ENST00000337331.10:c.332C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Ser111Phe
ENST00000337331.9:c.332C>T (NPHP3)	ENSP00000338766.5:p.Ser111Phe
ENST00000383282.3:c.332C>T (NPHP3-ACAD11)	ENSP00000372769.2:p.Ser111Phe
ENST00000465756.5:c.99+233C>T (NPHP3)	ENSP00000419907.1:n.99+233C>T
ENST00000471702.2:c.332C>T (NPHP3-ACAD11)	ENSP00000419763.1:p.Ser111Phe
NM_153240.4:c.332C>T (NPHP3)	NP_694972.3:p.Ser111Phe
NR_037804.1:n.436C>T (NPHP3-ACAD11)
NR_002811.2:n.275G>A (NPHP3-AS1)
NR_152743.1:n.275G>A (NPHP3-AS1)
NM_153240.5:c.332C>T (NPHP3) MANE Select	NP_694972.3:p.Ser111Phe