Canonical Allele Identifier: CA2621748

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 698822
• ClinVar RCV Id: RCV000866395
• dbSNP Id: rs764978219
• ExAC: 3:132403536 T / C
• gnomAD v2: 3-132403536-T-C
• gnomAD v3: 3-132684692-T-C
• gnomAD v4: 3-132684692-T-C
• COSMIC: COSM1038494
• MyVariant Identifiers: chr3:g.132403536T>C (hg19) ; chr3:g.132684692T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684692T>C , CM000665.2:g.132684692T>C	GRCh38
NC_000003.11:g.132403536T>C , CM000665.1:g.132403536T>C	GRCh37
NC_000003.10:g.133886226T>C	NCBI36
NG_008130.1:g.42741A>G
NG_008130.2:g.42741A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1340A>G (NPHP3)	ENSP00000508078.1:n.*1340A>G
ENST00000337331.10:c.3432A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Leu1144=
ENST00000337331.9:c.3432A>G (NPHP3)	ENSP00000338766.5:p.Leu1144=
ENST00000465756.5:c.*1340A>G (NPHP3)	ENSP00000419907.1:n.*1340A>G
ENST00000471702.2:c.*1423A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1423A>G
ENST00000474871.5:n.2631A>G (NPHP3)
ENST00000490993.5:n.4157A>G (NPHP3)
ENST00000493732.5:n.132A>G (NPHP3)
ENST00000632629.1:c.79A>G (NPHP3-ACAD11)
NM_153240.4:c.3432A>G (NPHP3)	NP_694972.3:p.Leu1144=
NR_037804.1:n.3438A>G (NPHP3-ACAD11)
NM_153240.5:c.3432A>G (NPHP3) MANE Select	NP_694972.3:p.Leu1144=