Canonical Allele Identifier: CA2622716

Gene: NPHP3 NPHP3-ACAD11 NPHP3-AS1

Linked Data

• ClinVar Variation Id: 500896
• ClinVar RCV Id: RCV000596794 ; RCV000704076 ; RCV000764468 ; RCV003362851
• dbSNP Id: rs369447363
• ExAC: 3:132441135 G / A
• gnomAD v2: 3-132441135-G-A
• gnomAD v3: 3-132722291-G-A
• gnomAD v4: 3-132722291-G-A
• MyVariant Identifiers: chr3:g.132441135G>A (hg19) ; chr3:g.132722291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132722291G>A , CM000665.2:g.132722291G>A	GRCh38
NC_000003.11:g.132441135G>A , CM000665.1:g.132441135G>A	GRCh37
NC_000003.10:g.133923825G>A	NCBI36
NG_008130.1:g.5142C>T
NG_008130.2:g.5142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683570.1:c.65C>T (NPHP3)	ENSP00000508409.1:p.Ala22Val
ENST00000684294.1:c.65C>T (NPHP3)	ENSP00000508078.1:p.Ala22Val
ENST00000337331.10:c.65C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Ala22Val
ENST00000337331.9:c.65C>T (NPHP3)	ENSP00000338766.5:p.Ala22Val
ENST00000383282.3:c.65C>T (NPHP3-ACAD11)	ENSP00000372769.2:p.Ala22Val
ENST00000465756.5:c.65C>T (NPHP3)	ENSP00000419907.1:p.Ala22Val
ENST00000471702.2:c.65C>T (NPHP3-ACAD11)	ENSP00000419763.1:p.Ala22Val
NM_153240.4:c.65C>T (NPHP3)	NP_694972.3:p.Ala22Val
NR_037804.1:n.169C>T (NPHP3-ACAD11)
NR_002811.2:n.542G>A (NPHP3-AS1)
NR_152743.1:n.542G>A (NPHP3-AS1)
NM_153240.5:c.65C>T (NPHP3) MANE Select	NP_694972.3:p.Ala22Val