Canonical Allele Identifier: CA10614889

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343354
• ClinVar RCV Id: RCV000299660 ; RCV000367140 ; RCV000396746
• dbSNP Id: rs576904017
• gnomAD v2: 3-132399633-T-C
• gnomAD v3: 3-132680789-T-C
• gnomAD v4: 3-132680789-T-C
• MyVariant Identifiers: chr3:g.132399633T>C (hg19) ; chr3:g.132680789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680789T>C , CM000665.2:g.132680789T>C	GRCh38
NC_000003.11:g.132399633T>C , CM000665.1:g.132399633T>C	GRCh37
NC_000003.10:g.133882323T>C	NCBI36
NG_008130.1:g.46644A>G
NG_008130.2:g.46644A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337331.10:c.*1121A>G (NPHP3) MANE Select	ENSP00000338766.5:n.*1121A>G
ENST00000471702.2:c.*1980+1125A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1125A>G
ENST00000474871.5:n.4313A>G (NPHP3)
ENST00000632629.1:c.636+1125A>G (NPHP3-ACAD11)
NM_153240.4:c.*1121A>G (NPHP3)	NP_694972.3:n.*1121A>G
NR_037804.1:n.3995+1125A>G (NPHP3-ACAD11)
NM_153240.5:c.*1121A>G (NPHP3) MANE Select	NP_694972.3:n.*1121A>G