Canonical Allele Identifier: CA224191

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 96514
• ClinVar RCV Id: RCV000082667 ; RCV001434859
• dbSNP Id: rs150489788
• ExAC: 3:132409377 A / G
• gnomAD v2: 3-132409377-A-G
• gnomAD v3: 3-132690533-A-G
• gnomAD v4: 3-132690533-A-G
• MyVariant Identifiers: chr3:g.132409377A>G (hg19) ; chr3:g.132690533A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132690533A>G , CM000665.2:g.132690533A>G	GRCh38
NC_000003.11:g.132409377A>G , CM000665.1:g.132409377A>G	GRCh37
NC_000003.10:g.133892067A>G	NCBI36
NG_008130.1:g.36900T>C
NG_008130.2:g.36900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*596T>C (NPHP3)	ENSP00000508078.1:n.*596T>C
ENST00000337331.10:c.2688T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Tyr896=
ENST00000337331.9:c.2688T>C (NPHP3)	ENSP00000338766.5:p.Tyr896=
ENST00000465756.5:c.*596T>C (NPHP3)	ENSP00000419907.1:n.*596T>C
ENST00000471702.2:c.*679T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*679T>C
ENST00000474871.5:n.422T>C (NPHP3)
ENST00000490993.5:n.3413T>C (NPHP3)
NM_153240.4:c.2688T>C (NPHP3)	NP_694972.3:p.Tyr896=
NR_037804.1:n.2694T>C (NPHP3-ACAD11)
NM_153240.5:c.2688T>C (NPHP3) MANE Select	NP_694972.3:p.Tyr896=