Canonical Allele Identifier: CA354579241

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 2284715
• ClinVar RCV Id: RCV002858765
• MyVariant Identifiers: chr3:g.132403637T>C (hg19) ; chr3:g.132684793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684793T>C , CM000665.2:g.132684793T>C	GRCh38
NC_000003.11:g.132403637T>C , CM000665.1:g.132403637T>C	GRCh37
NC_000003.10:g.133886327T>C	NCBI36
NG_008130.1:g.42640A>G
NG_008130.2:g.42640A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1239A>G (NPHP3)	ENSP00000508078.1:n.*1239A>G
ENST00000337331.10:c.3331A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Thr1111Ala
ENST00000337331.9:c.3331A>G (NPHP3)	ENSP00000338766.5:p.Thr1111Ala
ENST00000465756.5:c.*1239A>G (NPHP3)	ENSP00000419907.1:n.*1239A>G
ENST00000471702.2:c.*1322A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1322A>G
ENST00000474871.5:n.2530A>G (NPHP3)
ENST00000490993.5:n.4056A>G (NPHP3)
ENST00000493732.5:n.31A>G (NPHP3)
NM_153240.4:c.3331A>G (NPHP3)	NP_694972.3:p.Thr1111Ala
NR_037804.1:n.3337A>G (NPHP3-ACAD11)
NM_153240.5:c.3331A>G (NPHP3) MANE Select	NP_694972.3:p.Thr1111Ala