Canonical Allele Identifier: CA2622426

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 450392
• ClinVar RCV Id: RCV000731009 ; RCV000764466 ; RCV001086831
• dbSNP Id: rs146250226
• ExAC: 3:132432006 G / C
• gnomAD v2: 3-132432006-G-C
• gnomAD v3: 3-132713162-G-C
• gnomAD v4: 3-132713162-G-C
• MyVariant Identifiers: chr3:g.132432006G>C (hg19) ; chr3:g.132713162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132713162G>C , CM000665.2:g.132713162G>C	GRCh38
NC_000003.11:g.132432006G>C , CM000665.1:g.132432006G>C	GRCh37
NC_000003.10:g.133914696G>C	NCBI36
NG_008130.1:g.14271C>G
NG_008130.2:g.14271C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.788C>G (NPHP3)	ENSP00000508078.1:p.Ser263Cys
ENST00000337331.10:c.1082C>G (NPHP3) MANE Select	ENSP00000338766.5:p.Ser361Cys
ENST00000337331.9:c.1082C>G (NPHP3)	ENSP00000338766.5:p.Ser361Cys
ENST00000465756.5:c.788C>G (NPHP3)	ENSP00000419907.1:p.Ser263Cys
ENST00000469232.5:c.897C>G (NPHP3)	ENSP00000418664.1:n.897C>G
ENST00000471702.2:c.1082C>G (NPHP3-ACAD11)	ENSP00000419763.1:p.Ser361Cys
ENST00000476742.1:n.316C>G (NPHP3)
ENST00000490993.5:n.858C>G (NPHP3)
NM_153240.4:c.1082C>G (NPHP3)	NP_694972.3:p.Ser361Cys
NR_037804.1:n.1186C>G (NPHP3-ACAD11)
NM_153240.5:c.1082C>G (NPHP3) MANE Select	NP_694972.3:p.Ser361Cys