Canonical Allele Identifier: CA2622236

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 1427744
• ClinVar RCV Id: RCV001933863 ; RCV002560571
• dbSNP Id: rs776287337
• ExAC: 3:132419267 G / T
• gnomAD v2: 3-132419267-G-T
• gnomAD v3: 3-132700423-G-T
• gnomAD v4: 3-132700423-G-T
• MyVariant Identifiers: chr3:g.132419267G>T (hg19) ; chr3:g.132700423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700423G>T , CM000665.2:g.132700423G>T	GRCh38
NC_000003.11:g.132419267G>T , CM000665.1:g.132419267G>T	GRCh37
NC_000003.10:g.133901957G>T	NCBI36
NG_008130.1:g.27010C>A
NG_008130.2:g.27010C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1360C>A (NPHP3)	ENSP00000508078.1:p.Pro454Thr
ENST00000337331.10:c.1654C>A (NPHP3) MANE Select	ENSP00000338766.5:p.Pro552Thr
ENST00000337331.9:c.1654C>A (NPHP3)	ENSP00000338766.5:p.Pro552Thr
ENST00000465756.5:c.1360C>A (NPHP3)	ENSP00000419907.1:p.Pro454Thr
ENST00000469232.5:c.1469C>A (NPHP3)	ENSP00000418664.1:n.1469C>A
ENST00000471702.2:c.1654C>A (NPHP3-ACAD11)	ENSP00000419763.1:p.Pro552Thr
ENST00000490993.5:n.1430C>A (NPHP3)
NM_153240.4:c.1654C>A (NPHP3)	NP_694972.3:p.Pro552Thr
NR_037804.1:n.1758C>A (NPHP3-ACAD11)
NM_153240.5:c.1654C>A (NPHP3) MANE Select	NP_694972.3:p.Pro552Thr