Canonical Allele Identifier: CA1139658260

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 903379
• ClinVar RCV Id: RCV001150639 ; RCV001150638 ; RCV001150640
• dbSNP Id: rs1939002888

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680726T>A , CM000665.2:g.132680726T>A	GRCh38
NC_000003.11:g.132399570T>A , CM000665.1:g.132399570T>A	GRCh37
NC_000003.10:g.133882260T>A	NCBI36
NG_008130.1:g.46707A>T
NG_008130.2:g.46707A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*1184A>T (NPHP3) MANE Select	ENSP00000338766.5:n.*1184A>T
ENST00000471702.2:c.*1980+1188A>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1188A>T
ENST00000474871.5:n.4376A>T (NPHP3)
ENST00000632629.1:c.636+1188A>T (NPHP3-ACAD11)
NM_153240.4:c.*1184A>T (NPHP3)	NP_694972.3:n.*1184A>T
NR_037804.1:n.3995+1188A>T (NPHP3-ACAD11)
NM_153240.5:c.*1184A>T (NPHP3) MANE Select	NP_694972.3:n.*1184A>T