Canonical Allele Identifier: CA899018976

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1386333431
• gnomAD v4: 3-132688994-C-G
• MyVariant Identifiers: chr3:g.132407838C>G (hg19) ; chr3:g.132688994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132688994C>G , CM000665.2:g.132688994C>G	GRCh38
NC_000003.11:g.132407838C>G , CM000665.1:g.132407838C>G	GRCh37
NC_000003.10:g.133890528C>G	NCBI36
NG_008130.1:g.38439G>C
NG_008130.2:g.38439G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*791+80G>C (NPHP3)	ENSP00000508078.1:n.*791+80G>C
ENST00000337331.10:c.2883+80G>C (NPHP3) MANE Select	ENSP00000338766.5:n.2883+80G>C
ENST00000337331.9:c.2883+80G>C (NPHP3)	ENSP00000338766.5:n.2883+80G>C
ENST00000465756.5:c.*791+80G>C (NPHP3)	ENSP00000419907.1:n.*791+80G>C
ENST00000471702.2:c.*874+80G>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*874+80G>C
ENST00000474871.5:n.617+80G>C (NPHP3)
ENST00000490993.5:n.3608+80G>C (NPHP3)
NM_153240.4:c.2883+80G>C (NPHP3)	NP_694972.3:n.2883+80G>C
NR_037804.1:n.2889+80G>C (NPHP3-ACAD11)
NM_153240.5:c.2883+80G>C (NPHP3) MANE Select	NP_694972.3:n.2883+80G>C