Canonical Allele Identifier: CA2622186

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 262693
• ClinVar RCV Id: RCV000251450 ; RCV000547153 ; RCV001147213 ; RCV001145265 ; RCV001147212 ; RCV001573072
• dbSNP Id: rs79113972
• ExAC: 3:132418756 C / T
• gnomAD v2: 3-132418756-C-T
• gnomAD v3: 3-132699912-C-T
• gnomAD v4: 3-132699912-C-T
• MyVariant Identifiers: chr3:g.132418756C>T (hg19) ; chr3:g.132699912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132699912C>T , CM000665.2:g.132699912C>T	GRCh38
NC_000003.11:g.132418756C>T , CM000665.1:g.132418756C>T	GRCh37
NC_000003.10:g.133901446C>T	NCBI36
NG_008130.1:g.27521G>A
NG_008130.2:g.27521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1593+6G>A (NPHP3)	ENSP00000508078.1:n.1593+6G>A
ENST00000337331.10:c.1887+6G>A (NPHP3) MANE Select	ENSP00000338766.5:n.1887+6G>A
ENST00000337331.9:c.1887+6G>A (NPHP3)	ENSP00000338766.5:n.1887+6G>A
ENST00000465756.5:c.1593+6G>A (NPHP3)	ENSP00000419907.1:n.1593+6G>A
ENST00000471702.2:c.1887+6G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.1887+6G>A
ENST00000490993.5:n.1663+6G>A (NPHP3)
NM_153240.4:c.1887+6G>A (NPHP3)	NP_694972.3:n.1887+6G>A
NR_037804.1:n.1991+6G>A (NPHP3-ACAD11)
NM_153240.5:c.1887+6G>A (NPHP3) MANE Select	NP_694972.3:n.1887+6G>A