Canonical Allele Identifier: CA2621829
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.132687234A>C
GRCh37 chr3:g.132406078A>C
gnomAD v2:
3:132406078 A / C
gnomAD v3:
3:132687234 A / C
gnomAD v4:
chr3-132687234-A-C
Joint Max Group AF 0.00023463 (NFE)
Genomes Max Group AF 0.0001709 (NFE)
Exomes Max Group AF 0.0002332 (NFE)
ClinVar Allele:
685142
ClinVar RCV:
RCV000861211
RCV002501191
ClinVar Variation:
695505
dbSNP:
201592109
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132687234A>C , CM000665.2:g.132687234A>C GRCh38
NC_000003.11:g.132406078A>C , CM000665.1:g.132406078A>C GRCh37
NC_000003.10:g.133888768A>C NCBI36
NG_008130.1:g.40199T>G
NG_008130.2:g.40199T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*1034-8T>G (NPHP3) ENSP00000508078.1:n.*1034-8T>G
ENST00000337331.10:c.3126-8T>G (NPHP3) MANE Select ENSP00000338766.5:n.3126-8T>G
ENST00000337331.9:c.3126-8T>G (NPHP3) ENSP00000338766.5:n.3126-8T>G
ENST00000465756.5:c.*1034-8T>G (NPHP3) ENSP00000419907.1:n.*1034-8T>G
ENST00000471702.2:c.*1117-8T>G (NPHP3-ACAD11) ENSP00000419763.1:n.*1117-8T>G
ENST00000474871.5:n.860-8T>G (NPHP3)
ENST00000490993.5:n.3851-8T>G (NPHP3)
NM_153240.4:c.3126-8T>G (NPHP3) NP_694972.3:n.3126-8T>G
NR_037804.1:n.3132-8T>G (NPHP3-ACAD11)
NM_153240.5:c.3126-8T>G (NPHP3) MANE Select NP_694972.3:n.3126-8T>G
Search 100 bp 5'
Search 100 bp 3'