Canonical Allele Identifier: CA2621852

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 497878
• ClinVar RCV Id: RCV000598039 ; RCV001294980 ; RCV002483585 ; RCV004530666
• dbSNP Id: rs769832219
• ExAC: 3:132407556 C / T
• gnomAD v2: 3-132407556-C-T
• gnomAD v3: 3-132688712-C-T
• gnomAD v4: 3-132688712-C-T
• MyVariant Identifiers: chr3:g.132407556C>T (hg19) ; chr3:g.132688712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132688712C>T , CM000665.2:g.132688712C>T	GRCh38
NC_000003.11:g.132407556C>T , CM000665.1:g.132407556C>T	GRCh37
NC_000003.10:g.133890246C>T	NCBI36
NG_008130.1:g.38721G>A
NG_008130.2:g.38721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*971G>A (NPHP3)	ENSP00000508078.1:n.*971G>A
ENST00000337331.10:c.3063G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Ala1021=
ENST00000337331.9:c.3063G>A (NPHP3)	ENSP00000338766.5:p.Ala1021=
ENST00000465756.5:c.*971G>A (NPHP3)	ENSP00000419907.1:n.*971G>A
ENST00000471702.2:c.*1054G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1054G>A
ENST00000474871.5:n.797G>A (NPHP3)
ENST00000490993.5:n.3788G>A (NPHP3)
NM_153240.4:c.3063G>A (NPHP3)	NP_694972.3:p.Ala1021=
NR_037804.1:n.3069G>A (NPHP3-ACAD11)
NM_153240.5:c.3063G>A (NPHP3) MANE Select	NP_694972.3:p.Ala1021=