Canonical Allele Identifier: CA180240
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132684574C>T
GRCh37 chr3:g.132403418C>T
Revel Score:
ENST00000393144 0.788
ENST00000393156 0.788
ENST00000512094 0.788
ENST00000337331 (MANE Select) 0.788
gnomAD v2:
3:132403418 C / T
gnomAD v3:
3:132684574 C / T
gnomAD v4:
chr3-132684574-C-T
Joint Max Group AF 0.00979385 (SAS)
Genomes Max Group AF 0.01065974 (NFE)
Exomes Max Group AF 0.00977827 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132684574C>T , CM000665.2:g.132684574C>T GRCh38
NC_000003.11:g.132403418C>T , CM000665.1:g.132403418C>T GRCh37
NC_000003.10:g.133886108C>T NCBI36
NG_008130.1:g.42859G>A
NG_008130.2:g.42859G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*1458G>A (NPHP3) ENSP00000508078.1:n.*1458G>A
ENST00000337331.10:c.3550G>A (NPHP3) MANE Select ENSP00000338766.5:p.Ala1184Thr
ENST00000337331.9:c.3550G>A (NPHP3) ENSP00000338766.5:p.Ala1184Thr
ENST00000465756.5:c.*1458G>A (NPHP3) ENSP00000419907.1:n.*1458G>A
ENST00000471702.2:c.*1541G>A (NPHP3-ACAD11) ENSP00000419763.1:n.*1541G>A
ENST00000474871.5:n.2749G>A (NPHP3)
ENST00000490993.5:n.4275G>A (NPHP3)
ENST00000493732.5:n.250G>A (NPHP3)
ENST00000512094.5:c.112G>A (NPHP3) ENSP00000427666.1:p.Ala38Thr
ENST00000632629.1:c.197G>A (NPHP3-ACAD11)
NM_153240.4:c.3550G>A (NPHP3) NP_694972.3:p.Ala1184Thr
NR_037804.1:n.3556G>A (NPHP3-ACAD11)
NM_153240.5:c.3550G>A (NPHP3) MANE Select NP_694972.3:p.Ala1184Thr
Search 100 bp 5'
Search 100 bp 3'