Canonical Allele Identifier: CA2621763

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 497618
• ClinVar RCV Id: RCV000594676 ; RCV001436666 ; RCV004530663
• dbSNP Id: rs188431787
• ExAC: 3:132403632 A / G
• gnomAD v2: 3-132403632-A-G
• gnomAD v3: 3-132684788-A-G
• gnomAD v4: 3-132684788-A-G
• MyVariant Identifiers: chr3:g.132403632A>G (hg19) ; chr3:g.132684788A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684788A>G , CM000665.2:g.132684788A>G	GRCh38
NC_000003.11:g.132403632A>G , CM000665.1:g.132403632A>G	GRCh37
NC_000003.10:g.133886322A>G	NCBI36
NG_008130.1:g.42645T>C
NG_008130.2:g.42645T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1244T>C (NPHP3)	ENSP00000508078.1:n.*1244T>C
ENST00000337331.10:c.3336T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Ala1112=
ENST00000337331.9:c.3336T>C (NPHP3)	ENSP00000338766.5:p.Ala1112=
ENST00000465756.5:c.*1244T>C (NPHP3)	ENSP00000419907.1:n.*1244T>C
ENST00000471702.2:c.*1327T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1327T>C
ENST00000474871.5:n.2535T>C (NPHP3)
ENST00000490993.5:n.4061T>C (NPHP3)
ENST00000493732.5:n.36T>C (NPHP3)
NM_153240.4:c.3336T>C (NPHP3)	NP_694972.3:p.Ala1112=
NR_037804.1:n.3342T>C (NPHP3-ACAD11)
NM_153240.5:c.3336T>C (NPHP3) MANE Select	NP_694972.3:p.Ala1112=