Canonical Allele Identifier: CA2621603

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 951359
• ClinVar RCV Id: RCV001223251 ; RCV002480735
• dbSNP Id: rs373728120
• ExAC: 3:132400840 G / A
• gnomAD v2: 3-132400840-G-A
• gnomAD v3: 3-132681996-G-A
• gnomAD v4: 3-132681996-G-A
• MyVariant Identifiers: chr3:g.132400840G>A (hg19) ; chr3:g.132681996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681996G>A , CM000665.2:g.132681996G>A	GRCh38
NC_000003.11:g.132400840G>A , CM000665.1:g.132400840G>A	GRCh37
NC_000003.10:g.133883530G>A	NCBI36
NG_008130.1:g.45437C>T
NG_008130.2:g.45437C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1835C>T (NPHP3)	ENSP00000508078.1:n.*1835C>T
ENST00000337331.10:c.3907C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Pro1303Ser
ENST00000337331.9:c.3907C>T (NPHP3)	ENSP00000338766.5:p.Pro1303Ser
ENST00000465756.5:c.*1815C>T (NPHP3)	ENSP00000419907.1:n.*1815C>T
ENST00000471702.2:c.*1898C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1898C>T
ENST00000474871.5:n.3106C>T (NPHP3)
ENST00000490993.5:n.4632C>T (NPHP3)
ENST00000493732.5:n.1219C>T (NPHP3)
ENST00000512094.5:c.353C>T (NPHP3)	ENSP00000427666.1:n.353C>T
ENST00000632629.1:c.554C>T (NPHP3-ACAD11)
NM_153240.4:c.3907C>T (NPHP3)	NP_694972.3:p.Pro1303Ser
NR_037804.1:n.3913C>T (NPHP3-ACAD11)
NM_153240.5:c.3907C>T (NPHP3) MANE Select	NP_694972.3:p.Pro1303Ser