Canonical Allele Identifier: CA10617278
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 343357
ClinVar RCV Id: RCV000290084 RCV000328805 RCV000377564
dbSNP Id: rs186828918
gnomAD v2: 3-132399734-A-G
gnomAD v3: 3-132680890-A-G
gnomAD v4: 3-132680890-A-G
MyVariant Identifiers: chr3:g.132399734A>G (hg19) chr3:g.132680890A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132680890A>G , CM000665.2:g.132680890A>G GRCh38
NC_000003.11:g.132399734A>G , CM000665.1:g.132399734A>G GRCh37
NC_000003.10:g.133882424A>G NCBI36
NG_008130.1:g.46543T>C
NG_008130.2:g.46543T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337331.10:c.*1020T>C (NPHP3) MANE Select ENSP00000338766.5:n.*1020T>C
ENST00000471702.2:c.*1980+1024T>C (NPHP3-ACAD11) ENSP00000419763.1:n.*1980+1024T>C
ENST00000474871.5:n.4212T>C (NPHP3)
ENST00000632629.1:c.636+1024T>C (NPHP3-ACAD11)
NM_153240.4:c.*1020T>C (NPHP3) NP_694972.3:n.*1020T>C
NR_037804.1:n.3995+1024T>C (NPHP3-ACAD11)
NM_153240.5:c.*1020T>C (NPHP3) MANE Select NP_694972.3:n.*1020T>C
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