Canonical Allele Identifier: CA16604473

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 381594
• ClinVar RCV Id: RCV000434888 ; RCV001318647 ; RCV003325954
• dbSNP Id: rs1057521090
• gnomAD v2: 3-132403546-A-G
• gnomAD v3: 3-132684702-A-G
• gnomAD v4: 3-132684702-A-G
• MyVariant Identifiers: chr3:g.132403546A>G (hg19) ; chr3:g.132684702A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684702A>G , CM000665.2:g.132684702A>G	GRCh38
NC_000003.11:g.132403546A>G , CM000665.1:g.132403546A>G	GRCh37
NC_000003.10:g.133886236A>G	NCBI36
NG_008130.1:g.42731T>C
NG_008130.2:g.42731T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1330T>C (NPHP3)	ENSP00000508078.1:n.*1330T>C
ENST00000337331.10:c.3422T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Leu1141Pro
ENST00000337331.9:c.3422T>C (NPHP3)	ENSP00000338766.5:p.Leu1141Pro
ENST00000465756.5:c.*1330T>C (NPHP3)	ENSP00000419907.1:n.*1330T>C
ENST00000471702.2:c.*1413T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1413T>C
ENST00000474871.5:n.2621T>C (NPHP3)
ENST00000490993.5:n.4147T>C (NPHP3)
ENST00000493732.5:n.122T>C (NPHP3)
ENST00000632629.1:c.69T>C (NPHP3-ACAD11)
NM_153240.4:c.3422T>C (NPHP3)	NP_694972.3:p.Leu1141Pro
NR_037804.1:n.3428T>C (NPHP3-ACAD11)
NM_153240.5:c.3422T>C (NPHP3) MANE Select	NP_694972.3:p.Leu1141Pro