Canonical Allele Identifier: CA201960

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 96516
• ClinVar RCV Id: RCV000176505 ; RCV001246215 ; RCV002483155
• dbSNP Id: rs368138001
• ExAC: 3:132403595 G / A
• gnomAD v2: 3-132403595-G-A
• gnomAD v3: 3-132684751-G-A
• gnomAD v4: 3-132684751-G-A
• MyVariant Identifiers: chr3:g.132403595G>A (hg19) ; chr3:g.132684751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684751G>A , CM000665.2:g.132684751G>A	GRCh38
NC_000003.11:g.132403595G>A , CM000665.1:g.132403595G>A	GRCh37
NC_000003.10:g.133886285G>A	NCBI36
NG_008130.1:g.42682C>T
NG_008130.2:g.42682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1281C>T (NPHP3)	ENSP00000508078.1:n.*1281C>T
ENST00000337331.10:c.3373C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Arg1125Ter
ENST00000337331.9:c.3373C>T (NPHP3)	ENSP00000338766.5:p.Arg1125Ter
ENST00000465756.5:c.*1281C>T (NPHP3)	ENSP00000419907.1:n.*1281C>T
ENST00000471702.2:c.*1364C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1364C>T
ENST00000474871.5:n.2572C>T (NPHP3)
ENST00000490993.5:n.4098C>T (NPHP3)
ENST00000493732.5:n.73C>T (NPHP3)
ENST00000632629.1:c.20C>T (NPHP3-ACAD11)
NM_153240.4:c.3373C>T (NPHP3)	NP_694972.3:p.Arg1125Ter
NR_037804.1:n.3379C>T (NPHP3-ACAD11)
NM_153240.5:c.3373C>T (NPHP3) MANE Select	NP_694972.3:p.Arg1125Ter