Canonical Allele Identifier: CA234417

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 167379
• ClinVar RCV Id: RCV000153593 ; RCV000168169 ; RCV001145351 ; RCV001145350 ; RCV001149669 ; RCV001704114
• dbSNP Id: rs141477666
• ExAC: 3:132427031 G / A
• gnomAD v2: 3-132427031-G-A
• gnomAD v3: 3-132708187-G-A
• gnomAD v4: 3-132708187-G-A
• MyVariant Identifiers: chr3:g.132427031G>A (hg19) ; chr3:g.132708187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132708187G>A , CM000665.2:g.132708187G>A	GRCh38
NC_000003.11:g.132427031G>A , CM000665.1:g.132427031G>A	GRCh37
NC_000003.10:g.133909721G>A	NCBI36
NG_008130.1:g.19246C>T
NG_008130.2:g.19246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.895C>T (NPHP3)	ENSP00000508078.1:p.Arg299Cys
ENST00000337331.10:c.1189C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Arg397Cys
ENST00000337331.9:c.1189C>T (NPHP3)	ENSP00000338766.5:p.Arg397Cys
ENST00000465756.5:c.895C>T (NPHP3)	ENSP00000419907.1:p.Arg299Cys
ENST00000469232.5:c.1004C>T (NPHP3)	ENSP00000418664.1:n.1004C>T
ENST00000471702.2:c.1189C>T (NPHP3-ACAD11)	ENSP00000419763.1:p.Arg397Cys
ENST00000476742.1:n.423C>T (NPHP3)
ENST00000490993.5:n.965C>T (NPHP3)
NM_153240.4:c.1189C>T (NPHP3)	NP_694972.3:p.Arg397Cys
NR_037804.1:n.1293C>T (NPHP3-ACAD11)
NM_153240.5:c.1189C>T (NPHP3) MANE Select	NP_694972.3:p.Arg397Cys