Canonical Allele Identifier: CA2622376

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 288979
• ClinVar RCV Id: RCV000347274 ; RCV001214608 ; RCV004535419
• dbSNP Id: rs764000635
• ExAC: 3:132427037 A / C
• gnomAD v2: 3-132427037-A-C
• gnomAD v3: 3-132708193-A-C
• gnomAD v4: 3-132708193-A-C
• MyVariant Identifiers: chr3:g.132427037A>C (hg19) ; chr3:g.132708193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132708193A>C , CM000665.2:g.132708193A>C	GRCh38
NC_000003.11:g.132427037A>C , CM000665.1:g.132427037A>C	GRCh37
NC_000003.10:g.133909727A>C	NCBI36
NG_008130.1:g.19240T>G
NG_008130.2:g.19240T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.889T>G (NPHP3)	ENSP00000508078.1:p.Phe297Val
ENST00000337331.10:c.1183T>G (NPHP3) MANE Select	ENSP00000338766.5:p.Phe395Val
ENST00000337331.9:c.1183T>G (NPHP3)	ENSP00000338766.5:p.Phe395Val
ENST00000465756.5:c.889T>G (NPHP3)	ENSP00000419907.1:p.Phe297Val
ENST00000469232.5:c.998T>G (NPHP3)	ENSP00000418664.1:n.998T>G
ENST00000471702.2:c.1183T>G (NPHP3-ACAD11)	ENSP00000419763.1:p.Phe395Val
ENST00000476742.1:n.417T>G (NPHP3)
ENST00000490993.5:n.959T>G (NPHP3)
NM_153240.4:c.1183T>G (NPHP3)	NP_694972.3:p.Phe395Val
NR_037804.1:n.1287T>G (NPHP3-ACAD11)
NM_153240.5:c.1183T>G (NPHP3) MANE Select	NP_694972.3:p.Phe395Val