Canonical Allele Identifier: CA354588788

Gene: NPHP3 NPHP3-ACAD11 NPHP3-AS1

Linked Data

• ClinVar Variation Id: 1390586
• ClinVar RCV Id: RCV001891072
• dbSNP Id: rs1483057605
• MyVariant Identifiers: chr3:g.132440827G>A (hg19) ; chr3:g.132721983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132721983G>A , CM000665.2:g.132721983G>A	GRCh38
NC_000003.11:g.132440827G>A , CM000665.1:g.132440827G>A	GRCh37
NC_000003.10:g.133923517G>A	NCBI36
NG_008130.1:g.5450C>T
NG_008130.2:g.5450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683570.1:c.373C>T (NPHP3)	ENSP00000508409.1:p.Arg125Trp
ENST00000684294.1:c.99+274C>T (NPHP3)	ENSP00000508078.1:n.99+274C>T
ENST00000684756.1:n.96C>T (NPHP3)
ENST00000337331.10:c.373C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Arg125Trp
ENST00000337331.9:c.373C>T (NPHP3)	ENSP00000338766.5:p.Arg125Trp
ENST00000383282.3:c.373C>T (NPHP3-ACAD11)	ENSP00000372769.2:p.Arg125Trp
ENST00000465756.5:c.99+274C>T (NPHP3)	ENSP00000419907.1:n.99+274C>T
ENST00000469232.5:c.25C>T (NPHP3)	ENSP00000418664.1:p.Arg9Trp
ENST00000471702.2:c.373C>T (NPHP3-ACAD11)	ENSP00000419763.1:p.Arg125Trp
NM_153240.4:c.373C>T (NPHP3)	NP_694972.3:p.Arg125Trp
NR_037804.1:n.477C>T (NPHP3-ACAD11)
NR_002811.2:n.234G>A (NPHP3-AS1)
NR_152743.1:n.234G>A (NPHP3-AS1)
NM_153240.5:c.373C>T (NPHP3) MANE Select	NP_694972.3:p.Arg125Trp