Canonical Allele Identifier: CA354577936

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs2107960499
• MyVariant Identifiers: chr3:g.132400830T>G (hg19) ; chr3:g.132681986T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681986T>G , CM000665.2:g.132681986T>G	GRCh38
NC_000003.11:g.132400830T>G , CM000665.1:g.132400830T>G	GRCh37
NC_000003.10:g.133883520T>G	NCBI36
NG_008130.1:g.45447A>C
NG_008130.2:g.45447A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1845A>C (NPHP3)	ENSP00000508078.1:n.*1845A>C
ENST00000337331.10:c.3917A>C (NPHP3) MANE Select	ENSP00000338766.5:p.His1306Pro
ENST00000337331.9:c.3917A>C (NPHP3)	ENSP00000338766.5:p.His1306Pro
ENST00000465756.5:c.*1825A>C (NPHP3)	ENSP00000419907.1:n.*1825A>C
ENST00000471702.2:c.*1908A>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1908A>C
ENST00000474871.5:n.3116A>C (NPHP3)
ENST00000490993.5:n.4642A>C (NPHP3)
ENST00000493732.5:n.1229A>C (NPHP3)
ENST00000512094.5:c.363A>C (NPHP3)	ENSP00000427666.1:n.363A>C
ENST00000632629.1:c.564A>C (NPHP3-ACAD11)
NM_153240.4:c.3917A>C (NPHP3)	NP_694972.3:p.His1306Pro
NR_037804.1:n.3923A>C (NPHP3-ACAD11)
NM_153240.5:c.3917A>C (NPHP3) MANE Select	NP_694972.3:p.His1306Pro