Canonical Allele Identifier: CA354580347
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1979227
ClinVar RCV Id: RCV002775254
dbSNP Id: rs1939236073
gnomAD v3: 3-132689117-T-C
gnomAD v4: 3-132689117-T-C
MyVariant Identifiers: chr3:g.132407961T>C (hg19) chr3:g.132689117T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132689117T>C , CM000665.2:g.132689117T>C GRCh38
NC_000003.11:g.132407961T>C , CM000665.1:g.132407961T>C GRCh37
NC_000003.10:g.133890651T>C NCBI36
NG_008130.1:g.38316A>G
NG_008130.2:g.38316A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*748A>G (NPHP3) ENSP00000508078.1:n.*748A>G
ENST00000337331.10:c.2840A>G (NPHP3) MANE Select ENSP00000338766.5:p.Glu947Gly
ENST00000337331.9:c.2840A>G (NPHP3) ENSP00000338766.5:p.Glu947Gly
ENST00000465756.5:c.*748A>G (NPHP3) ENSP00000419907.1:n.*748A>G
ENST00000471702.2:c.*831A>G (NPHP3-ACAD11) ENSP00000419763.1:n.*831A>G
ENST00000474871.5:n.574A>G (NPHP3)
ENST00000490993.5:n.3565A>G (NPHP3)
NM_153240.4:c.2840A>G (NPHP3) NP_694972.3:p.Glu947Gly
NR_037804.1:n.2846A>G (NPHP3-ACAD11)
NM_153240.5:c.2840A>G (NPHP3) MANE Select NP_694972.3:p.Glu947Gly
Search 100 bp 5'
Search 100 bp 3'