Canonical Allele Identifier: CA2621845
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132688682T>C
GRCh37 chr3:g.132407526T>C
gnomAD v2:
3:132407526 T / C
gnomAD v3:
3:132688682 T / C
gnomAD v4:
chr3-132688682-T-C
Joint Max Group AF 0.00432396 (AFR)
Genomes Max Group AF 0.00324939 (AFR)
Exomes Max Group AF 0.00529577 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132688682T>C , CM000665.2:g.132688682T>C GRCh38
NC_000003.11:g.132407526T>C , CM000665.1:g.132407526T>C GRCh37
NC_000003.10:g.133890216T>C NCBI36
NG_008130.1:g.38751A>G
NG_008130.2:g.38751A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*1001A>G (NPHP3) ENSP00000508078.1:n.*1001A>G
ENST00000337331.10:c.3093A>G (NPHP3) MANE Select ENSP00000338766.5:p.Glu1031=
ENST00000337331.9:c.3093A>G (NPHP3) ENSP00000338766.5:p.Glu1031=
ENST00000465756.5:c.*1001A>G (NPHP3) ENSP00000419907.1:n.*1001A>G
ENST00000471702.2:c.*1084A>G (NPHP3-ACAD11) ENSP00000419763.1:n.*1084A>G
ENST00000474871.5:n.827A>G (NPHP3)
ENST00000490993.5:n.3818A>G (NPHP3)
NM_153240.4:c.3093A>G (NPHP3) NP_694972.3:p.Glu1031=
NR_037804.1:n.3099A>G (NPHP3-ACAD11)
NM_153240.5:c.3093A>G (NPHP3) MANE Select NP_694972.3:p.Glu1031=
Search 100 bp 5'
Search 100 bp 3'