Canonical Allele Identifier: CA207387

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 211684
• ClinVar RCV Id: RCV000193710 ; RCV000535033 ; RCV001149549 ; RCV001149550 ; RCV001149551 ; RCV001705082
• dbSNP Id: rs141397228
• ExAC: 3:132415666 G / A
• gnomAD v2: 3-132415666-G-A
• gnomAD v3: 3-132696822-G-A
• gnomAD v4: 3-132696822-G-A
• MyVariant Identifiers: chr3:g.132415666G>A (hg19) ; chr3:g.132696822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132696822G>A , CM000665.2:g.132696822G>A	GRCh38
NC_000003.11:g.132415666G>A , CM000665.1:g.132415666G>A	GRCh37
NC_000003.10:g.133898356G>A	NCBI36
NG_008130.1:g.30611C>T
NG_008130.2:g.30611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*79+438C>T (NPHP3)	ENSP00000508078.1:n.*79+438C>T
ENST00000337331.10:c.2089-9C>T (NPHP3) MANE Select	ENSP00000338766.5:n.2089-9C>T
ENST00000337331.9:c.2089-9C>T (NPHP3)	ENSP00000338766.5:n.2089-9C>T
ENST00000465756.5:c.*79+438C>T (NPHP3)	ENSP00000419907.1:n.*79+438C>T
ENST00000471702.2:c.*80-9C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*80-9C>T
ENST00000490993.5:n.1767-9C>T (NPHP3)
NM_153240.4:c.2089-9C>T (NPHP3)	NP_694972.3:n.2089-9C>T
NR_037804.1:n.2095-9C>T (NPHP3-ACAD11)
NM_153240.5:c.2089-9C>T (NPHP3) MANE Select	NP_694972.3:n.2089-9C>T