Canonical Allele Identifier: CA2622191

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343386
• ClinVar RCV Id: RCV000314328 ; RCV000348230 ; RCV000393177 ; RCV000592297 ; RCV004530387 ; RCV001094838
• dbSNP Id: rs139730838
• ExAC: 3:132418796 A / G
• gnomAD v2: 3-132418796-A-G
• gnomAD v3: 3-132699952-A-G
• gnomAD v4: 3-132699952-A-G
• MyVariant Identifiers: chr3:g.132418796A>G (hg19) ; chr3:g.132699952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132699952A>G , CM000665.2:g.132699952A>G	GRCh38
NC_000003.11:g.132418796A>G , CM000665.1:g.132418796A>G	GRCh37
NC_000003.10:g.133901486A>G	NCBI36
NG_008130.1:g.27481T>C
NG_008130.2:g.27481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1559T>C (NPHP3)	ENSP00000508078.1:p.Ile520Thr
ENST00000337331.10:c.1853T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Ile618Thr
ENST00000337331.9:c.1853T>C (NPHP3)	ENSP00000338766.5:p.Ile618Thr
ENST00000465756.5:c.1559T>C (NPHP3)	ENSP00000419907.1:p.Ile520Thr
ENST00000471702.2:c.1853T>C (NPHP3-ACAD11)	ENSP00000419763.1:p.Ile618Thr
ENST00000490993.5:n.1629T>C (NPHP3)
NM_153240.4:c.1853T>C (NPHP3)	NP_694972.3:p.Ile618Thr
NR_037804.1:n.1957T>C (NPHP3-ACAD11)
NM_153240.5:c.1853T>C (NPHP3) MANE Select	NP_694972.3:p.Ile618Thr