Canonical Allele Identifier: CA240970

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 194799
• ClinVar RCV Id: RCV000175248 ; RCV001087576
• dbSNP Id: rs111683745
• ExAC: 3:132411531 A / G
• gnomAD v2: 3-132411531-A-G
• gnomAD v3: 3-132692687-A-G
• gnomAD v4: 3-132692687-A-G
• MyVariant Identifiers: chr3:g.132411531A>G (hg19) ; chr3:g.132692687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132692687A>G , CM000665.2:g.132692687A>G	GRCh38
NC_000003.11:g.132411531A>G , CM000665.1:g.132411531A>G	GRCh37
NC_000003.10:g.133894221A>G	NCBI36
NG_008130.1:g.34746T>C
NG_008130.2:g.34746T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*350T>C (NPHP3)	ENSP00000508078.1:n.*350T>C
ENST00000337331.10:c.2442T>C (NPHP3) MANE Select	ENSP00000338766.5:p.Tyr814=
ENST00000337331.9:c.2442T>C (NPHP3)	ENSP00000338766.5:p.Tyr814=
ENST00000465756.5:c.*350T>C (NPHP3)	ENSP00000419907.1:n.*350T>C
ENST00000471702.2:c.*433T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*433T>C
ENST00000474871.5:n.176T>C (NPHP3)
ENST00000490993.5:n.3167T>C (NPHP3)
ENST00000515289.2:n.462T>C (NPHP3)
NM_153240.4:c.2442T>C (NPHP3)	NP_694972.3:p.Tyr814=
NR_037804.1:n.2448T>C (NPHP3-ACAD11)
NM_153240.5:c.2442T>C (NPHP3) MANE Select	NP_694972.3:p.Tyr814=