Canonical Allele Identifier: CA2621607

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 291194
• ClinVar RCV Id: RCV000338910 ; RCV000764464 ; RCV000799611 ; RCV004543152
• dbSNP Id: rs190548695
• ExAC: 3:132400851 C / T
• gnomAD v2: 3-132400851-C-T
• gnomAD v3: 3-132682007-C-T
• gnomAD v4: 3-132682007-C-T
• MyVariant Identifiers: chr3:g.132400851C>T (hg19) ; chr3:g.132682007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132682007C>T , CM000665.2:g.132682007C>T	GRCh38
NC_000003.11:g.132400851C>T , CM000665.1:g.132400851C>T	GRCh37
NC_000003.10:g.133883541C>T	NCBI36
NG_008130.1:g.45426G>A
NG_008130.2:g.45426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1824G>A (NPHP3)	ENSP00000508078.1:n.*1824G>A
ENST00000337331.10:c.3896G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Gly1299Asp
ENST00000337331.9:c.3896G>A (NPHP3)	ENSP00000338766.5:p.Gly1299Asp
ENST00000465756.5:c.*1804G>A (NPHP3)	ENSP00000419907.1:n.*1804G>A
ENST00000471702.2:c.*1887G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1887G>A
ENST00000474871.5:n.3095G>A (NPHP3)
ENST00000490993.5:n.4621G>A (NPHP3)
ENST00000493732.5:n.1208G>A (NPHP3)
ENST00000512094.5:c.342G>A (NPHP3)	ENSP00000427666.1:n.342G>A
ENST00000632629.1:c.543G>A (NPHP3-ACAD11)
NM_153240.4:c.3896G>A (NPHP3)	NP_694972.3:p.Gly1299Asp
NR_037804.1:n.3902G>A (NPHP3-ACAD11)
NM_153240.5:c.3896G>A (NPHP3) MANE Select	NP_694972.3:p.Gly1299Asp