Canonical Allele Identifier: CA10617378

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343353
• ClinVar RCV Id: RCV000314834 ; RCV000345128 ; RCV000396712
• dbSNP Id: rs183658380
• gnomAD v2: 3-132399578-C-T
• gnomAD v3: 3-132680734-C-T
• gnomAD v4: 3-132680734-C-T
• MyVariant Identifiers: chr3:g.132399578C>T (hg19) ; chr3:g.132680734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680734C>T , CM000665.2:g.132680734C>T	GRCh38
NC_000003.11:g.132399578C>T , CM000665.1:g.132399578C>T	GRCh37
NC_000003.10:g.133882268C>T	NCBI36
NG_008130.1:g.46699G>A
NG_008130.2:g.46699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*1176G>A (NPHP3) MANE Select	ENSP00000338766.5:n.*1176G>A
ENST00000471702.2:c.*1980+1180G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1180G>A
ENST00000474871.5:n.4368G>A (NPHP3)
ENST00000632629.1:c.636+1180G>A (NPHP3-ACAD11)
NM_153240.4:c.*1176G>A (NPHP3)	NP_694972.3:n.*1176G>A
NR_037804.1:n.3995+1180G>A (NPHP3-ACAD11)
NM_153240.5:c.*1176G>A (NPHP3) MANE Select	NP_694972.3:n.*1176G>A