Canonical Allele Identifier: CA2621746

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs776245475
• ExAC: 3:132403532 T / C
• gnomAD v2: 3-132403532-T-C
• gnomAD v4: 3-132684688-T-C
• MyVariant Identifiers: chr3:g.132403532T>C (hg19) ; chr3:g.132684688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684688T>C , CM000665.2:g.132684688T>C	GRCh38
NC_000003.11:g.132403532T>C , CM000665.1:g.132403532T>C	GRCh37
NC_000003.10:g.133886222T>C	NCBI36
NG_008130.1:g.42745A>G
NG_008130.2:g.42745A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1344A>G (NPHP3)	ENSP00000508078.1:n.*1344A>G
ENST00000337331.10:c.3436A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Asn1146Asp
ENST00000337331.9:c.3436A>G (NPHP3)	ENSP00000338766.5:p.Asn1146Asp
ENST00000465756.5:c.*1344A>G (NPHP3)	ENSP00000419907.1:n.*1344A>G
ENST00000471702.2:c.*1427A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1427A>G
ENST00000474871.5:n.2635A>G (NPHP3)
ENST00000490993.5:n.4161A>G (NPHP3)
ENST00000493732.5:n.136A>G (NPHP3)
ENST00000632629.1:c.83A>G (NPHP3-ACAD11)
NM_153240.4:c.3436A>G (NPHP3)	NP_694972.3:p.Asn1146Asp
NR_037804.1:n.3442A>G (NPHP3-ACAD11)
NM_153240.5:c.3436A>G (NPHP3) MANE Select	NP_694972.3:p.Asn1146Asp