Canonical Allele Identifier: CA83586376

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 498105
• ClinVar RCV Id: RCV000595262 ; RCV001087856
• dbSNP Id: rs866796047
• gnomAD v4: 3-132691275-T-G
• MyVariant Identifiers: chr3:g.132410119T>G (hg19) ; chr3:g.132691275T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132691275T>G , CM000665.2:g.132691275T>G	GRCh38
NC_000003.11:g.132410119T>G , CM000665.1:g.132410119T>G	GRCh37
NC_000003.10:g.133892809T>G	NCBI36
NG_008130.1:g.36158A>C
NG_008130.2:g.36158A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*395A>C (NPHP3)	ENSP00000508078.1:n.*395A>C
ENST00000337331.10:c.2487A>C (NPHP3) MANE Select	ENSP00000338766.5:p.Thr829=
ENST00000337331.9:c.2487A>C (NPHP3)	ENSP00000338766.5:p.Thr829=
ENST00000465756.5:c.*395A>C (NPHP3)	ENSP00000419907.1:n.*395A>C
ENST00000471702.2:c.*478A>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*478A>C
ENST00000474871.5:n.221A>C (NPHP3)
ENST00000490993.5:n.3212A>C (NPHP3)
ENST00000515289.2:n.507A>C (NPHP3)
NM_153240.4:c.2487A>C (NPHP3)	NP_694972.3:p.Thr829=
NR_037804.1:n.2493A>C (NPHP3-ACAD11)
NM_153240.5:c.2487A>C (NPHP3) MANE Select	NP_694972.3:p.Thr829=