Canonical Allele Identifier: CA10614893

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343361
• ClinVar RCV Id: RCV000305980 ; RCV000358492 ; RCV000397162 ; RCV001848695
• dbSNP Id: rs116338839
• gnomAD v2: 3-132399995-C-T
• gnomAD v3: 3-132681151-C-T
• gnomAD v4: 3-132681151-C-T
• MyVariant Identifiers: chr3:g.132399995C>T (hg19) ; chr3:g.132681151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681151C>T , CM000665.2:g.132681151C>T	GRCh38
NC_000003.11:g.132399995C>T , CM000665.1:g.132399995C>T	GRCh37
NC_000003.10:g.133882685C>T	NCBI36
NG_008130.1:g.46282G>A
NG_008130.2:g.46282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*759G>A (NPHP3) MANE Select	ENSP00000338766.5:n.*759G>A
ENST00000471702.2:c.*1980+763G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+763G>A
ENST00000474871.5:n.3951G>A (NPHP3)
ENST00000632629.1:c.636+763G>A (NPHP3-ACAD11)
NM_153240.4:c.*759G>A (NPHP3)	NP_694972.3:n.*759G>A
NR_037804.1:n.3995+763G>A (NPHP3-ACAD11)
NM_153240.5:c.*759G>A (NPHP3) MANE Select	NP_694972.3:n.*759G>A