Canonical Allele Identifier: CA546269072

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 1356272
• ClinVar RCV Id: RCV001870002
• dbSNP Id: rs1176486903
• gnomAD v2: 3-132419311-A-C
• gnomAD v3: 3-132700467-A-C
• gnomAD v4: 3-132700467-A-C
• MyVariant Identifiers: chr3:g.132419311A>C (hg19) ; chr3:g.132700467A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700467A>C , CM000665.2:g.132700467A>C	GRCh38
NC_000003.11:g.132419311A>C , CM000665.1:g.132419311A>C	GRCh37
NC_000003.10:g.133902001A>C	NCBI36
NG_008130.1:g.26966T>G
NG_008130.2:g.26966T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1335-19T>G (NPHP3)	ENSP00000508078.1:n.1335-19T>G
ENST00000337331.10:c.1629-19T>G (NPHP3) MANE Select	ENSP00000338766.5:n.1629-19T>G
ENST00000337331.9:c.1629-19T>G (NPHP3)	ENSP00000338766.5:n.1629-19T>G
ENST00000465756.5:c.1335-19T>G (NPHP3)	ENSP00000419907.1:n.1335-19T>G
ENST00000469232.5:c.1444-19T>G (NPHP3)	ENSP00000418664.1:n.1444-19T>G
ENST00000471702.2:c.1629-19T>G (NPHP3-ACAD11)	ENSP00000419763.1:n.1629-19T>G
ENST00000490993.5:n.1405-19T>G (NPHP3)
NM_153240.4:c.1629-19T>G (NPHP3)	NP_694972.3:n.1629-19T>G
NR_037804.1:n.1733-19T>G (NPHP3-ACAD11)
NM_153240.5:c.1629-19T>G (NPHP3) MANE Select	NP_694972.3:n.1629-19T>G