Canonical Allele Identifier: CA2621594

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 262714
• ClinVar RCV Id: RCV000248210 ; RCV000542228 ; RCV001722363 ; RCV002294209
• dbSNP Id: rs113364886
• ExAC: 3:132400776 A / G
• gnomAD v2: 3-132400776-A-G
• gnomAD v3: 3-132681932-A-G
• gnomAD v4: 3-132681932-A-G
• MyVariant Identifiers: chr3:g.132400776A>G (hg19) ; chr3:g.132681932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681932A>G , CM000665.2:g.132681932A>G	GRCh38
NC_000003.11:g.132400776A>G , CM000665.1:g.132400776A>G	GRCh37
NC_000003.10:g.133883466A>G	NCBI36
NG_008130.1:g.45501T>C
NG_008130.2:g.45501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1899T>C (NPHP3)	ENSP00000508078.1:n.*1899T>C
ENST00000337331.10:c.3971T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Phe1324Ser
ENST00000337331.9:c.3971T>C (NPHP3)	ENSP00000338766.5:p.Phe1324Ser
ENST00000465756.5:c.*1879T>C (NPHP3)	ENSP00000419907.1:n.*1879T>C
ENST00000471702.2:c.*1962T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1962T>C
ENST00000474871.5:n.3170T>C (NPHP3)
ENST00000490993.5:n.4696T>C (NPHP3)
ENST00000493732.5:n.1283T>C (NPHP3)
ENST00000512094.5:c.417T>C (NPHP3)	ENSP00000427666.1:n.417T>C
ENST00000632629.1:c.618T>C (NPHP3-ACAD11)
NM_153240.4:c.3971T>C (NPHP3)	NP_694972.3:p.Phe1324Ser
NR_037804.1:n.3977T>C (NPHP3-ACAD11)
NM_153240.5:c.3971T>C (NPHP3) MANE Select	NP_694972.3:p.Phe1324Ser