Canonical Allele Identifier: CA354579009

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 1376656
• ClinVar RCV Id: RCV001886051
• dbSNP Id: rs2107963367
• gnomAD v4: 3-132684685-C-A
• MyVariant Identifiers: chr3:g.132403529C>A (hg19) ; chr3:g.132684685C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684685C>A , CM000665.2:g.132684685C>A	GRCh38
NC_000003.11:g.132403529C>A , CM000665.1:g.132403529C>A	GRCh37
NC_000003.10:g.133886219C>A	NCBI36
NG_008130.1:g.42748G>T
NG_008130.2:g.42748G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1347G>T (NPHP3)	ENSP00000508078.1:n.*1347G>T
ENST00000337331.10:c.3439G>T (NPHP3) MANE Select	ENSP00000338766.5:p.Glu1147Ter
ENST00000337331.9:c.3439G>T (NPHP3)	ENSP00000338766.5:p.Glu1147Ter
ENST00000465756.5:c.*1347G>T (NPHP3)	ENSP00000419907.1:n.*1347G>T
ENST00000471702.2:c.*1430G>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1430G>T
ENST00000474871.5:n.2638G>T (NPHP3)
ENST00000490993.5:n.4164G>T (NPHP3)
ENST00000493732.5:n.139G>T (NPHP3)
ENST00000512094.5:c.1G>T (NPHP3)	ENSP00000427666.1:p.Glu1Ter
ENST00000632629.1:c.86G>T (NPHP3-ACAD11)
NM_153240.4:c.3439G>T (NPHP3)	NP_694972.3:p.Glu1147Ter
NR_037804.1:n.3445G>T (NPHP3-ACAD11)
NM_153240.5:c.3439G>T (NPHP3) MANE Select	NP_694972.3:p.Glu1147Ter