Canonical Allele Identifier: CA435785233
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

COSMIC: COSM4113652
MyVariant Identifiers: chr3:g.132403635T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132684791T>C , CM000665.2:g.132684791T>C GRCh38
NC_000003.11:g.132403635T>C , CM000665.1:g.132403635T>C GRCh37
NC_000003.10:g.133886325T>C NCBI36
NG_008130.1:g.42642A>G
NG_008130.2:g.42642A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684294.1:c.*1241A>G (NPHP3) ENSP00000508078.1:n.*1241A>G
ENST00000337331.10:c.3333A>G (NPHP3) MANE Select ENSP00000338766.5:p.Thr1111=
ENST00000337331.9:c.3333A>G (NPHP3) ENSP00000338766.5:p.Thr1111=
ENST00000465756.5:c.*1241A>G (NPHP3) ENSP00000419907.1:n.*1241A>G
ENST00000471702.2:c.*1324A>G (NPHP3-ACAD11) ENSP00000419763.1:n.*1324A>G
ENST00000474871.5:n.2532A>G (NPHP3)
ENST00000490993.5:n.4058A>G (NPHP3)
ENST00000493732.5:n.33A>G (NPHP3)
NM_153240.4:c.3333A>G (NPHP3) NP_694972.3:p.Thr1111=
NR_037804.1:n.3339A>G (NPHP3-ACAD11)
NM_153240.5:c.3333A>G (NPHP3) MANE Select NP_694972.3:p.Thr1111=
Search 100 bp 5'
Search 100 bp 3'