Canonical Allele Identifier: CA10617381

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343358
• ClinVar RCV Id: RCV000295240 ; RCV000352473 ; RCV000381051 ; RCV001797083
• dbSNP Id: rs141464909
• gnomAD v2: 3-132399939-C-T
• gnomAD v3: 3-132681095-C-T
• gnomAD v4: 3-132681095-C-T
• MyVariant Identifiers: chr3:g.132399939C>T (hg19) ; chr3:g.132681095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681095C>T , CM000665.2:g.132681095C>T	GRCh38
NC_000003.11:g.132399939C>T , CM000665.1:g.132399939C>T	GRCh37
NC_000003.10:g.133882629C>T	NCBI36
NG_008130.1:g.46338G>A
NG_008130.2:g.46338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*815G>A (NPHP3) MANE Select	ENSP00000338766.5:n.*815G>A
ENST00000471702.2:c.*1980+819G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+819G>A
ENST00000474871.5:n.4007G>A (NPHP3)
ENST00000632629.1:c.636+819G>A (NPHP3-ACAD11)
NM_153240.4:c.*815G>A (NPHP3)	NP_694972.3:n.*815G>A
NR_037804.1:n.3995+819G>A (NPHP3-ACAD11)
NM_153240.5:c.*815G>A (NPHP3) MANE Select	NP_694972.3:n.*815G>A