Canonical Allele Identifier: CA2621602

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 1637947
• ClinVar RCV Id: RCV002133739
• dbSNP Id: rs114049311
• ExAC: 3:132400835 T / C
• gnomAD v2: 3-132400835-T-C
• gnomAD v3: 3-132681991-T-C
• gnomAD v4: 3-132681991-T-C
• MyVariant Identifiers: chr3:g.132400835T>C (hg19) ; chr3:g.132681991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681991T>C , CM000665.2:g.132681991T>C	GRCh38
NC_000003.11:g.132400835T>C , CM000665.1:g.132400835T>C	GRCh37
NC_000003.10:g.133883525T>C	NCBI36
NG_008130.1:g.45442A>G
NG_008130.2:g.45442A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1840A>G (NPHP3)	ENSP00000508078.1:n.*1840A>G
ENST00000337331.10:c.3912A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Ser1304=
ENST00000337331.9:c.3912A>G (NPHP3)	ENSP00000338766.5:p.Ser1304=
ENST00000465756.5:c.*1820A>G (NPHP3)	ENSP00000419907.1:n.*1820A>G
ENST00000471702.2:c.*1903A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1903A>G
ENST00000474871.5:n.3111A>G (NPHP3)
ENST00000490993.5:n.4637A>G (NPHP3)
ENST00000493732.5:n.1224A>G (NPHP3)
ENST00000512094.5:c.358A>G (NPHP3)	ENSP00000427666.1:n.358A>G
ENST00000632629.1:c.559A>G (NPHP3-ACAD11)
NM_153240.4:c.3912A>G (NPHP3)	NP_694972.3:p.Ser1304=
NR_037804.1:n.3918A>G (NPHP3-ACAD11)
NM_153240.5:c.3912A>G (NPHP3) MANE Select	NP_694972.3:p.Ser1304=