Canonical Allele Identifier: CA240794

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 194681
• ClinVar RCV Id: RCV000175106 ; RCV001207746 ; RCV002485133
• dbSNP Id: rs375032661
• ExAC: 3:132413813 T / C
• gnomAD v2: 3-132413813-T-C
• gnomAD v3: 3-132694969-T-C
• gnomAD v4: 3-132694969-T-C
• MyVariant Identifiers: chr3:g.132413813T>C (hg19) ; chr3:g.132694969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132694969T>C , CM000665.2:g.132694969T>C	GRCh38
NC_000003.11:g.132413813T>C , CM000665.1:g.132413813T>C	GRCh37
NC_000003.10:g.133896503T>C	NCBI36
NG_008130.1:g.32464A>G
NG_008130.2:g.32464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*80-4A>G (NPHP3)	ENSP00000508078.1:n.*80-4A>G
ENST00000337331.10:c.2172-4A>G (NPHP3) MANE Select	ENSP00000338766.5:n.2172-4A>G
ENST00000337331.9:c.2172-4A>G (NPHP3)	ENSP00000338766.5:n.2172-4A>G
ENST00000465756.5:c.*80-4A>G (NPHP3)	ENSP00000419907.1:n.*80-4A>G
ENST00000471702.2:c.*163-4A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*163-4A>G
ENST00000490993.5:n.1850-4A>G (NPHP3)
ENST00000515289.2:n.188A>G (NPHP3)
NM_153240.4:c.2172-4A>G (NPHP3)	NP_694972.3:n.2172-4A>G
NR_037804.1:n.2178-4A>G (NPHP3-ACAD11)
NM_153240.5:c.2172-4A>G (NPHP3) MANE Select	NP_694972.3:n.2172-4A>G