Canonical Allele Identifier: CA546265319

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1246162132
• gnomAD v2: 3-132399608-G-A
• gnomAD v3: 3-132680764-G-A
• gnomAD v4: 3-132680764-G-A
• MyVariant Identifiers: chr3:g.132399608G>A (hg19) ; chr3:g.132680764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132680764G>A , CM000665.2:g.132680764G>A	GRCh38
NC_000003.11:g.132399608G>A , CM000665.1:g.132399608G>A	GRCh37
NC_000003.10:g.133882298G>A	NCBI36
NG_008130.1:g.46669C>T
NG_008130.2:g.46669C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337331.10:c.*1146C>T (NPHP3) MANE Select	ENSP00000338766.5:n.*1146C>T
ENST00000471702.2:c.*1980+1150C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+1150C>T
ENST00000474871.5:n.4338C>T (NPHP3)
ENST00000632629.1:c.636+1150C>T (NPHP3-ACAD11)
NM_153240.4:c.*1146C>T (NPHP3)	NP_694972.3:n.*1146C>T
NR_037804.1:n.3995+1150C>T (NPHP3-ACAD11)
NM_153240.5:c.*1146C>T (NPHP3) MANE Select	NP_694972.3:n.*1146C>T