Canonical Allele Identifier: CA83582120

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs886849745
• gnomAD v3: 3-132684733-G-T
• gnomAD v4: 3-132684733-G-T
• MyVariant Identifiers: chr3:g.132403577G>T (hg19) ; chr3:g.132684733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684733G>T , CM000665.2:g.132684733G>T	GRCh38
NC_000003.11:g.132403577G>T , CM000665.1:g.132403577G>T	GRCh37
NC_000003.10:g.133886267G>T	NCBI36
NG_008130.1:g.42700C>A
NG_008130.2:g.42700C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1299C>A (NPHP3)	ENSP00000508078.1:n.*1299C>A
ENST00000337331.10:c.3391C>A (NPHP3) MANE Select	ENSP00000338766.5:p.His1131Asn
ENST00000337331.9:c.3391C>A (NPHP3)	ENSP00000338766.5:p.His1131Asn
ENST00000465756.5:c.*1299C>A (NPHP3)	ENSP00000419907.1:n.*1299C>A
ENST00000471702.2:c.*1382C>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1382C>A
ENST00000474871.5:n.2590C>A (NPHP3)
ENST00000490993.5:n.4116C>A (NPHP3)
ENST00000493732.5:n.91C>A (NPHP3)
ENST00000632629.1:c.38C>A (NPHP3-ACAD11)
NM_153240.4:c.3391C>A (NPHP3)	NP_694972.3:p.His1131Asn
NR_037804.1:n.3397C>A (NPHP3-ACAD11)
NM_153240.5:c.3391C>A (NPHP3) MANE Select	NP_694972.3:p.His1131Asn