Canonical Allele Identifier: CA354579230

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132684787-C-G
• MyVariant Identifiers: chr3:g.132403631C>G (hg19) ; chr3:g.132684787C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132684787C>G , CM000665.2:g.132684787C>G	GRCh38
NC_000003.11:g.132403631C>G , CM000665.1:g.132403631C>G	GRCh37
NC_000003.10:g.133886321C>G	NCBI36
NG_008130.1:g.42646G>C
NG_008130.2:g.42646G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*1245G>C (NPHP3)	ENSP00000508078.1:n.*1245G>C
ENST00000337331.10:c.3337G>C (NPHP3) MANE Select	ENSP00000338766.5:p.Asp1113His
ENST00000337331.9:c.3337G>C (NPHP3)	ENSP00000338766.5:p.Asp1113His
ENST00000465756.5:c.*1245G>C (NPHP3)	ENSP00000419907.1:n.*1245G>C
ENST00000471702.2:c.*1328G>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*1328G>C
ENST00000474871.5:n.2536G>C (NPHP3)
ENST00000490993.5:n.4062G>C (NPHP3)
ENST00000493732.5:n.37G>C (NPHP3)
NM_153240.4:c.3337G>C (NPHP3)	NP_694972.3:p.Asp1113His
NR_037804.1:n.3343G>C (NPHP3-ACAD11)
NM_153240.5:c.3337G>C (NPHP3) MANE Select	NP_694972.3:p.Asp1113His