Canonical Allele Identifier: CA83585032

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 1401289
• ClinVar RCV Id: RCV001935058
• dbSNP Id: rs948593540
• gnomAD v2: 3-132407913-C-T
• gnomAD v3: 3-132689069-C-T
• gnomAD v4: 3-132689069-C-T
• MyVariant Identifiers: chr3:g.132407913C>T (hg19) ; chr3:g.132689069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689069C>T , CM000665.2:g.132689069C>T	GRCh38
NC_000003.11:g.132407913C>T , CM000665.1:g.132407913C>T	GRCh37
NC_000003.10:g.133890603C>T	NCBI36
NG_008130.1:g.38364G>A
NG_008130.2:g.38364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*791+5G>A (NPHP3)	ENSP00000508078.1:n.*791+5G>A
ENST00000337331.10:c.2883+5G>A (NPHP3) MANE Select	ENSP00000338766.5:n.2883+5G>A
ENST00000337331.9:c.2883+5G>A (NPHP3)	ENSP00000338766.5:n.2883+5G>A
ENST00000465756.5:c.*791+5G>A (NPHP3)	ENSP00000419907.1:n.*791+5G>A
ENST00000471702.2:c.*874+5G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*874+5G>A
ENST00000474871.5:n.617+5G>A (NPHP3)
ENST00000490993.5:n.3608+5G>A (NPHP3)
NM_153240.4:c.2883+5G>A (NPHP3)	NP_694972.3:n.2883+5G>A
NR_037804.1:n.2889+5G>A (NPHP3-ACAD11)
NM_153240.5:c.2883+5G>A (NPHP3) MANE Select	NP_694972.3:n.2883+5G>A