Canonical Allele Identifier: CA336458

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 216136
• ClinVar RCV Id: RCV000196484 ; RCV000763096 ; RCV000788946
• dbSNP Id: rs182135982
• ExAC: 3:132418832 C / T
• gnomAD v2: 3-132418832-C-T
• gnomAD v3: 3-132699988-C-T
• gnomAD v4: 3-132699988-C-T
• MyVariant Identifiers: chr3:g.132418832C>T (hg19) ; chr3:g.132699988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132699988C>T , CM000665.2:g.132699988C>T	GRCh38
NC_000003.11:g.132418832C>T , CM000665.1:g.132418832C>T	GRCh37
NC_000003.10:g.133901522C>T	NCBI36
NG_008130.1:g.27445G>A
NG_008130.2:g.27445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1523G>A (NPHP3)	ENSP00000508078.1:p.Trp508Ter
ENST00000337331.10:c.1817G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Trp606Ter
ENST00000337331.9:c.1817G>A (NPHP3)	ENSP00000338766.5:p.Trp606Ter
ENST00000465756.5:c.1523G>A (NPHP3)	ENSP00000419907.1:p.Trp508Ter
ENST00000471702.2:c.1817G>A (NPHP3-ACAD11)	ENSP00000419763.1:p.Trp606Ter
ENST00000490993.5:n.1593G>A (NPHP3)
NM_153240.4:c.1817G>A (NPHP3)	NP_694972.3:p.Trp606Ter
NR_037804.1:n.1921G>A (NPHP3-ACAD11)
NM_153240.5:c.1817G>A (NPHP3) MANE Select	NP_694972.3:p.Trp606Ter