Canonical Allele Identifier: CA2621718

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 262706
• ClinVar RCV Id: RCV000242754 ; RCV000537454 ; RCV002294207 ; RCV002500934
• dbSNP Id: rs112749193
• ExAC: 3:132403389 C / A
• gnomAD v2: 3-132403389-C-A
• gnomAD v3: 3-132684545-C-A
• gnomAD v4: 3-132684545-C-A
• MyVariant Identifiers: chr3:g.132403389C>A (hg19) ; chr3:g.132684545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684545C>A , CM000665.2:g.132684545C>A	GRCh38
NC_000003.11:g.132403389C>A , CM000665.1:g.132403389C>A	GRCh37
NC_000003.10:g.133886079C>A	NCBI36
NG_008130.1:g.42888G>T
NG_008130.2:g.42888G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1478+9G>T (NPHP3)	ENSP00000508078.1:n.*1478+9G>T
ENST00000337331.10:c.3570+9G>T (NPHP3) MANE Select	ENSP00000338766.5:n.3570+9G>T
ENST00000337331.9:c.3570+9G>T (NPHP3)	ENSP00000338766.5:n.3570+9G>T
ENST00000465756.5:c.*1478+9G>T (NPHP3)	ENSP00000419907.1:n.*1478+9G>T
ENST00000471702.2:c.*1561+9G>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1561+9G>T
ENST00000474871.5:n.2769+9G>T (NPHP3)
ENST00000490993.5:n.4295+9G>T (NPHP3)
ENST00000493732.5:n.270+9G>T (NPHP3)
ENST00000512094.5:c.132+9G>T (NPHP3)	ENSP00000427666.1:n.132+9G>T
ENST00000632629.1:c.217+9G>T (NPHP3-ACAD11)
NM_153240.4:c.3570+9G>T (NPHP3)	NP_694972.3:n.3570+9G>T
NR_037804.1:n.3576+9G>T (NPHP3-ACAD11)
NM_153240.5:c.3570+9G>T (NPHP3) MANE Select	NP_694972.3:n.3570+9G>T