Canonical Allele Identifier: CA2622230

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs778120243
• ExAC: 3:132419228 T / C
• gnomAD v2: 3-132419228-T-C
• gnomAD v3: 3-132700384-T-C
• gnomAD v4: 3-132700384-T-C
• MyVariant Identifiers: chr3:g.132419228T>C (hg19) ; chr3:g.132700384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700384T>C , CM000665.2:g.132700384T>C	GRCh38
NC_000003.11:g.132419228T>C , CM000665.1:g.132419228T>C	GRCh37
NC_000003.10:g.133901918T>C	NCBI36
NG_008130.1:g.27049A>G
NG_008130.2:g.27049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1399A>G (NPHP3)	ENSP00000508078.1:p.Met467Val
ENST00000337331.10:c.1693A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Met565Val
ENST00000337331.9:c.1693A>G (NPHP3)	ENSP00000338766.5:p.Met565Val
ENST00000465756.5:c.1399A>G (NPHP3)	ENSP00000419907.1:p.Met467Val
ENST00000469232.5:c.1508A>G (NPHP3)	ENSP00000418664.1:n.1508A>G
ENST00000471702.2:c.1693A>G (NPHP3-ACAD11)	ENSP00000419763.1:p.Met565Val
ENST00000490993.5:n.1469A>G (NPHP3)
NM_153240.4:c.1693A>G (NPHP3)	NP_694972.3:p.Met565Val
NR_037804.1:n.1797A>G (NPHP3-ACAD11)
NM_153240.5:c.1693A>G (NPHP3) MANE Select	NP_694972.3:p.Met565Val