Canonical Allele Identifier: CA2621792

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 262704
• ClinVar RCV Id: RCV000243081 ; RCV000466608 ; RCV001147015 ; RCV001147014 ; RCV001147900 ; RCV001727662
• dbSNP Id: rs11915053
• ExAC: 3:132405181 T / C
• gnomAD v2: 3-132405181-T-C
• gnomAD v3: 3-132686337-T-C
• gnomAD v4: 3-132686337-T-C
• MyVariant Identifiers: chr3:g.132405181T>C (hg19) ; chr3:g.132686337T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132686337T>C , CM000665.2:g.132686337T>C	GRCh38
NC_000003.11:g.132405181T>C , CM000665.1:g.132405181T>C	GRCh37
NC_000003.10:g.133887871T>C	NCBI36
NG_008130.1:g.41096A>G
NG_008130.2:g.41096A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1160A>G (NPHP3)	ENSP00000508078.1:n.*1160A>G
ENST00000337331.10:c.3252A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Thr1084=
ENST00000337331.9:c.3252A>G (NPHP3)	ENSP00000338766.5:p.Thr1084=
ENST00000465756.5:c.*1160A>G (NPHP3)	ENSP00000419907.1:n.*1160A>G
ENST00000471702.2:c.*1243A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1243A>G
ENST00000474871.5:n.986A>G (NPHP3)
ENST00000490993.5:n.3977A>G (NPHP3)
NM_153240.4:c.3252A>G (NPHP3)	NP_694972.3:p.Thr1084=
NR_037804.1:n.3258A>G (NPHP3-ACAD11)
NM_153240.5:c.3252A>G (NPHP3) MANE Select	NP_694972.3:p.Thr1084=