Canonical Allele Identifier: CA83584977

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs139380346
• gnomAD v2: 3-132407850-G-A
• gnomAD v3: 3-132689006-G-A
• gnomAD v4: 3-132689006-G-A
• MyVariant Identifiers: chr3:g.132407850G>A (hg19) ; chr3:g.132689006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689006G>A , CM000665.2:g.132689006G>A	GRCh38
NC_000003.11:g.132407850G>A , CM000665.1:g.132407850G>A	GRCh37
NC_000003.10:g.133890540G>A	NCBI36
NG_008130.1:g.38427C>T
NG_008130.2:g.38427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*791+68C>T (NPHP3)	ENSP00000508078.1:n.*791+68C>T
ENST00000337331.10:c.2883+68C>T (NPHP3) MANE Select	ENSP00000338766.5:n.2883+68C>T
ENST00000337331.9:c.2883+68C>T (NPHP3)	ENSP00000338766.5:n.2883+68C>T
ENST00000465756.5:c.*791+68C>T (NPHP3)	ENSP00000419907.1:n.*791+68C>T
ENST00000471702.2:c.*874+68C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*874+68C>T
ENST00000474871.5:n.617+68C>T (NPHP3)
ENST00000490993.5:n.3608+68C>T (NPHP3)
NM_153240.4:c.2883+68C>T (NPHP3)	NP_694972.3:n.2883+68C>T
NR_037804.1:n.2889+68C>T (NPHP3-ACAD11)
NM_153240.5:c.2883+68C>T (NPHP3) MANE Select	NP_694972.3:n.2883+68C>T