Canonical Allele Identifier: CA2621908

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343382
• ClinVar RCV Id: RCV000283901 ; RCV000338978 ; RCV000403658 ; RCV000727224 ; RCV000764465 ; RCV001094790
• dbSNP Id: rs144989330
• ExAC: 3:132407920 G / C
• gnomAD v2: 3-132407920-G-C
• gnomAD v3: 3-132689076-G-C
• gnomAD v4: 3-132689076-G-C
• MyVariant Identifiers: chr3:g.132407920G>C (hg19) ; chr3:g.132689076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689076G>C , CM000665.2:g.132689076G>C	GRCh38
NC_000003.11:g.132407920G>C , CM000665.1:g.132407920G>C	GRCh37
NC_000003.10:g.133890610G>C	NCBI36
NG_008130.1:g.38357C>G
NG_008130.2:g.38357C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*789C>G (NPHP3)	ENSP00000508078.1:n.*789C>G
ENST00000337331.10:c.2881C>G (NPHP3) MANE Select	ENSP00000338766.5:p.Gln961Glu
ENST00000337331.9:c.2881C>G (NPHP3)	ENSP00000338766.5:p.Gln961Glu
ENST00000465756.5:c.*789C>G (NPHP3)	ENSP00000419907.1:n.*789C>G
ENST00000471702.2:c.*872C>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*872C>G
ENST00000474871.5:n.615C>G (NPHP3)
ENST00000490993.5:n.3606C>G (NPHP3)
NM_153240.4:c.2881C>G (NPHP3)	NP_694972.3:p.Gln961Glu
NR_037804.1:n.2887C>G (NPHP3-ACAD11)
NM_153240.5:c.2881C>G (NPHP3) MANE Select	NP_694972.3:p.Gln961Glu