Canonical Allele Identifier: CA2621659

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 262709
• ClinVar RCV Id: RCV000244060 ; RCV000729271 ; RCV001082788 ; RCV001147811 ; RCV001147812 ; RCV001149354
• dbSNP Id: rs146759786
• ExAC: 3:132401642 C / T
• gnomAD v2: 3-132401642-C-T
• gnomAD v3: 3-132682798-C-T
• gnomAD v4: 3-132682798-C-T
• MyVariant Identifiers: chr3:g.132401642C>T (hg19) ; chr3:g.132682798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132682798C>T , CM000665.2:g.132682798C>T	GRCh38
NC_000003.11:g.132401642C>T , CM000665.1:g.132401642C>T	GRCh37
NC_000003.10:g.133884332C>T	NCBI36
NG_008130.1:g.44635G>A
NG_008130.2:g.44635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1645G>A (NPHP3)	ENSP00000508078.1:n.*1645G>A
ENST00000337331.10:c.3717G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Leu1239=
ENST00000337331.9:c.3717G>A (NPHP3)	ENSP00000338766.5:p.Leu1239=
ENST00000465756.5:c.*1625G>A (NPHP3)	ENSP00000419907.1:n.*1625G>A
ENST00000471702.2:c.*1708G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*1708G>A
ENST00000474871.5:n.2916G>A (NPHP3)
ENST00000490993.5:n.4442G>A (NPHP3)
ENST00000493732.5:n.417G>A (NPHP3)
ENST00000512094.5:c.258+601G>A (NPHP3)	ENSP00000427666.1:n.258+601G>A
ENST00000632629.1:c.364G>A (NPHP3-ACAD11)
NM_153240.4:c.3717G>A (NPHP3)	NP_694972.3:p.Leu1239=
NR_037804.1:n.3723G>A (NPHP3-ACAD11)
NM_153240.5:c.3717G>A (NPHP3) MANE Select	NP_694972.3:p.Leu1239=