Canonical Allele Identifier: CA2621719

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343375
• ClinVar RCV Id: RCV000287561 ; RCV000328498 ; RCV000383968 ; RCV000593165 ; RCV001319951
• dbSNP Id: rs374989123
• ExAC: 3:132403394 T / C
• gnomAD v2: 3-132403394-T-C
• gnomAD v3: 3-132684550-T-C
• gnomAD v4: 3-132684550-T-C
• MyVariant Identifiers: chr3:g.132403394T>C (hg19) ; chr3:g.132684550T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684550T>C , CM000665.2:g.132684550T>C	GRCh38
NC_000003.11:g.132403394T>C , CM000665.1:g.132403394T>C	GRCh37
NC_000003.10:g.133886084T>C	NCBI36
NG_008130.1:g.42883A>G
NG_008130.2:g.42883A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1478+4A>G (NPHP3)	ENSP00000508078.1:n.*1478+4A>G
ENST00000337331.10:c.3570+4A>G (NPHP3) MANE Select	ENSP00000338766.5:n.3570+4A>G
ENST00000337331.9:c.3570+4A>G (NPHP3)	ENSP00000338766.5:n.3570+4A>G
ENST00000465756.5:c.*1478+4A>G (NPHP3)	ENSP00000419907.1:n.*1478+4A>G
ENST00000471702.2:c.*1561+4A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1561+4A>G
ENST00000474871.5:n.2769+4A>G (NPHP3)
ENST00000490993.5:n.4295+4A>G (NPHP3)
ENST00000493732.5:n.270+4A>G (NPHP3)
ENST00000512094.5:c.132+4A>G (NPHP3)	ENSP00000427666.1:n.132+4A>G
ENST00000632629.1:c.217+4A>G (NPHP3-ACAD11)
NM_153240.4:c.3570+4A>G (NPHP3)	NP_694972.3:n.3570+4A>G
NR_037804.1:n.3576+4A>G (NPHP3-ACAD11)
NM_153240.5:c.3570+4A>G (NPHP3) MANE Select	NP_694972.3:n.3570+4A>G