Canonical Allele Identifier: CA2621861

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 499254
• ClinVar RCV Id: RCV000593437 ; RCV001056390 ; RCV002476302 ; RCV004024761
• dbSNP Id: rs202145723
• ExAC: 3:132407587 G / A
• gnomAD v2: 3-132407587-G-A
• gnomAD v3: 3-132688743-G-A
• gnomAD v4: 3-132688743-G-A
• MyVariant Identifiers: chr3:g.132407587G>A (hg19) ; chr3:g.132688743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132688743G>A , CM000665.2:g.132688743G>A	GRCh38
NC_000003.11:g.132407587G>A , CM000665.1:g.132407587G>A	GRCh37
NC_000003.10:g.133890277G>A	NCBI36
NG_008130.1:g.38690C>T
NG_008130.2:g.38690C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*940C>T (NPHP3)	ENSP00000508078.1:n.*940C>T
ENST00000337331.10:c.3032C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Ala1011Val
ENST00000337331.9:c.3032C>T (NPHP3)	ENSP00000338766.5:p.Ala1011Val
ENST00000465756.5:c.*940C>T (NPHP3)	ENSP00000419907.1:n.*940C>T
ENST00000471702.2:c.*1023C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1023C>T
ENST00000474871.5:n.766C>T (NPHP3)
ENST00000490993.5:n.3757C>T (NPHP3)
NM_153240.4:c.3032C>T (NPHP3)	NP_694972.3:p.Ala1011Val
NR_037804.1:n.3038C>T (NPHP3-ACAD11)
NM_153240.5:c.3032C>T (NPHP3) MANE Select	NP_694972.3:p.Ala1011Val