Canonical Allele Identifier: CA899013918

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs756596834
• gnomAD v4: 3-132682093-T-C
• MyVariant Identifiers: chr3:g.132400937T>C (hg19) ; chr3:g.132682093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132682093T>C , CM000665.2:g.132682093T>C	GRCh38
NC_000003.11:g.132400937T>C , CM000665.1:g.132400937T>C	GRCh37
NC_000003.10:g.133883627T>C	NCBI36
NG_008130.1:g.45340A>G
NG_008130.2:g.45340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*1741-3A>G (NPHP3)	ENSP00000508078.1:n.*1741-3A>G
ENST00000337331.10:c.3813-3A>G (NPHP3) MANE Select	ENSP00000338766.5:n.3813-3A>G
ENST00000337331.9:c.3813-3A>G (NPHP3)	ENSP00000338766.5:n.3813-3A>G
ENST00000465756.5:c.*1721-3A>G (NPHP3)	ENSP00000419907.1:n.*1721-3A>G
ENST00000471702.2:c.*1804-3A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*1804-3A>G
ENST00000474871.5:n.3012-3A>G (NPHP3)
ENST00000490993.5:n.4538-3A>G (NPHP3)
ENST00000493732.5:n.1122A>G (NPHP3)
ENST00000512094.5:c.259-3A>G (NPHP3)	ENSP00000427666.1:n.259-3A>G
ENST00000632629.1:c.460-3A>G (NPHP3-ACAD11)
NM_153240.4:c.3813-3A>G (NPHP3)	NP_694972.3:n.3813-3A>G
NR_037804.1:n.3819-3A>G (NPHP3-ACAD11)
NM_153240.5:c.3813-3A>G (NPHP3) MANE Select	NP_694972.3:n.3813-3A>G