Canonical Allele Identifier: CA2622099

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343385
• ClinVar RCV Id: RCV000287621 ; RCV000342125 ; RCV000382755 ; RCV001437650 ; RCV004530386
• dbSNP Id: rs563403703
• ExAC: 3:132415577 C / T
• gnomAD v2: 3-132415577-C-T
• gnomAD v3: 3-132696733-C-T
• gnomAD v4: 3-132696733-C-T
• MyVariant Identifiers: chr3:g.132415577C>T (hg19) ; chr3:g.132696733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132696733C>T , CM000665.2:g.132696733C>T	GRCh38
NC_000003.11:g.132415577C>T , CM000665.1:g.132415577C>T	GRCh37
NC_000003.10:g.133898267C>T	NCBI36
NG_008130.1:g.30700G>A
NG_008130.2:g.30700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*79+527G>A (NPHP3)	ENSP00000508078.1:n.*79+527G>A
ENST00000337331.10:c.2169G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Ala723=
ENST00000337331.9:c.2169G>A (NPHP3)	ENSP00000338766.5:p.Ala723=
ENST00000465756.5:c.*79+527G>A (NPHP3)	ENSP00000419907.1:n.*79+527G>A
ENST00000471702.2:c.*160G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*160G>A
ENST00000490993.5:n.1847G>A (NPHP3)
NM_153240.4:c.2169G>A (NPHP3)	NP_694972.3:p.Ala723=
NR_037804.1:n.2175G>A (NPHP3-ACAD11)
NM_153240.5:c.2169G>A (NPHP3) MANE Select	NP_694972.3:p.Ala723=