Canonical Allele Identifier: CA2622104

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 262696
• ClinVar RCV Id: RCV000248754 ; RCV000726409 ; RCV001079754 ; RCV001775105
• dbSNP Id: rs558637226
• ExAC: 3:132415592 G / A
• gnomAD v2: 3-132415592-G-A
• gnomAD v3: 3-132696748-G-A
• gnomAD v4: 3-132696748-G-A
• MyVariant Identifiers: chr3:g.132415592G>A (hg19) ; chr3:g.132415592_132415593delinsAA (hg19) ; chr3:g.132696748G>A (hg38) ; chr3:g.132696748_132696749delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132696748G>A , CM000665.2:g.132696748G>A	GRCh38
NC_000003.11:g.132415592G>A , CM000665.1:g.132415592G>A	GRCh37
NC_000003.10:g.133898282G>A	NCBI36
NG_008130.1:g.30685C>T
NG_008130.2:g.30685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*79+512C>T (NPHP3)	ENSP00000508078.1:n.*79+512C>T
ENST00000337331.10:c.2154C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Phe718=
ENST00000337331.9:c.2154C>T (NPHP3)	ENSP00000338766.5:p.Phe718=
ENST00000465756.5:c.*79+512C>T (NPHP3)	ENSP00000419907.1:n.*79+512C>T
ENST00000471702.2:c.*145C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*145C>T
ENST00000490993.5:n.1832C>T (NPHP3)
NM_153240.4:c.2154C>T (NPHP3)	NP_694972.3:p.Phe718=
NR_037804.1:n.2160C>T (NPHP3-ACAD11)
NM_153240.5:c.2154C>T (NPHP3) MANE Select	NP_694972.3:p.Phe718=