Canonical Allele Identifier: CA10617284

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343371
• ClinVar RCV Id: RCV000286758 ; RCV000316835 ; RCV000378369
• dbSNP Id: rs886058001
• gnomAD v3: 3-132681771-A-C
• gnomAD v4: 3-132681771-A-C
• MyVariant Identifiers: chr3:g.132400615A>C (hg19) ; chr3:g.132681771A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681771A>C , CM000665.2:g.132681771A>C	GRCh38
NC_000003.11:g.132400615A>C , CM000665.1:g.132400615A>C	GRCh37
NC_000003.10:g.133883305A>C	NCBI36
NG_008130.1:g.45662T>G
NG_008130.2:g.45662T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*2060T>G (NPHP3)	ENSP00000508078.1:n.*2060T>G
ENST00000337331.10:c.*139T>G (NPHP3) MANE Select	ENSP00000338766.5:n.*139T>G
ENST00000337331.9:c.*139T>G (NPHP3)	ENSP00000338766.5:n.*139T>G
ENST00000465756.5:c.*2040T>G (NPHP3)	ENSP00000419907.1:n.*2040T>G
ENST00000471702.2:c.*1980+143T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+143T>G
ENST00000474871.5:n.3331T>G (NPHP3)
ENST00000490993.5:n.4857T>G (NPHP3)
ENST00000493732.5:n.1444T>G (NPHP3)
ENST00000512094.5:c.578T>G (NPHP3)	ENSP00000427666.1:n.578T>G
ENST00000632629.1:c.636+143T>G (NPHP3-ACAD11)
NM_153240.4:c.*139T>G (NPHP3)	NP_694972.3:n.*139T>G
NR_037804.1:n.3995+143T>G (NPHP3-ACAD11)
NM_153240.5:c.*139T>G (NPHP3) MANE Select	NP_694972.3:n.*139T>G