Canonical Allele Identifier: CA354590113

Gene: NPHP3 NPHP3-ACAD11 NPHP3-AS1

Linked Data

• ClinVar Variation Id: 462730
• ClinVar RCV Id: RCV000539283 ; RCV001783046
• dbSNP Id: rs773521620
• gnomAD v4: 3-132722296-G-C
• MyVariant Identifiers: chr3:g.132441140G>C (hg19) ; chr3:g.132722296G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132722296G>C , CM000665.2:g.132722296G>C	GRCh38
NC_000003.11:g.132441140G>C , CM000665.1:g.132441140G>C	GRCh37
NC_000003.10:g.133923830G>C	NCBI36
NG_008130.1:g.5137C>G
NG_008130.2:g.5137C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683570.1:c.60C>G (NPHP3)	ENSP00000508409.1:p.Tyr20Ter
ENST00000684294.1:c.60C>G (NPHP3)	ENSP00000508078.1:p.Tyr20Ter
ENST00000337331.10:c.60C>G (NPHP3) MANE Select	ENSP00000338766.5:p.Tyr20Ter
ENST00000337331.9:c.60C>G (NPHP3)	ENSP00000338766.5:p.Tyr20Ter
ENST00000383282.3:c.60C>G (NPHP3-ACAD11)	ENSP00000372769.2:p.Tyr20Ter
ENST00000465756.5:c.60C>G (NPHP3)	ENSP00000419907.1:p.Tyr20Ter
ENST00000471702.2:c.60C>G (NPHP3-ACAD11)	ENSP00000419763.1:p.Tyr20Ter
NM_153240.4:c.60C>G (NPHP3)	NP_694972.3:p.Tyr20Ter
NR_037804.1:n.164C>G (NPHP3-ACAD11)
NR_002811.2:n.547G>C (NPHP3-AS1)
NR_152743.1:n.547G>C (NPHP3-AS1)
NM_153240.5:c.60C>G (NPHP3) MANE Select	NP_694972.3:p.Tyr20Ter