Canonical Allele Identifier: CA354581603

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 499565
• ClinVar RCV Id: RCV000596830 ; RCV002497265
• dbSNP Id: rs1332659264
• gnomAD v2: 3-132411664-T-C
• gnomAD v3: 3-132692820-T-C
• gnomAD v4: 3-132692820-T-C
• MyVariant Identifiers: chr3:g.132411664T>C (hg19) ; chr3:g.132692820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132692820T>C , CM000665.2:g.132692820T>C	GRCh38
NC_000003.11:g.132411664T>C , CM000665.1:g.132411664T>C	GRCh37
NC_000003.10:g.133894354T>C	NCBI36
NG_008130.1:g.34613A>G
NG_008130.2:g.34613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*219-2A>G (NPHP3)	ENSP00000508078.1:n.*219-2A>G
ENST00000337331.10:c.2311-2A>G (NPHP3) MANE Select	ENSP00000338766.5:n.2311-2A>G
ENST00000337331.9:c.2311-2A>G (NPHP3)	ENSP00000338766.5:n.2311-2A>G
ENST00000465756.5:c.*219-2A>G (NPHP3)	ENSP00000419907.1:n.*219-2A>G
ENST00000471702.2:c.*302-2A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*302-2A>G
ENST00000474871.5:n.45-2A>G (NPHP3)
ENST00000490993.5:n.3034A>G (NPHP3)
ENST00000515289.2:n.331-2A>G (NPHP3)
NM_153240.4:c.2311-2A>G (NPHP3)	NP_694972.3:n.2311-2A>G
NR_037804.1:n.2317-2A>G (NPHP3-ACAD11)
NM_153240.5:c.2311-2A>G (NPHP3) MANE Select	NP_694972.3:n.2311-2A>G