Canonical Allele Identifier: CA436088326

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 1151482
• ClinVar RCV Id: RCV001492431
• dbSNP Id: rs2107967950
• gnomAD v4: 3-132689086-G-A
• MyVariant Identifiers: chr3:g.132407930G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689086G>A , CM000665.2:g.132689086G>A	GRCh38
NC_000003.11:g.132407930G>A , CM000665.1:g.132407930G>A	GRCh37
NC_000003.10:g.133890620G>A	NCBI36
NG_008130.1:g.38347C>T
NG_008130.2:g.38347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*779C>T (NPHP3)	ENSP00000508078.1:n.*779C>T
ENST00000337331.10:c.2871C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Gly957=
ENST00000337331.9:c.2871C>T (NPHP3)	ENSP00000338766.5:p.Gly957=
ENST00000465756.5:c.*779C>T (NPHP3)	ENSP00000419907.1:n.*779C>T
ENST00000471702.2:c.*862C>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*862C>T
ENST00000474871.5:n.605C>T (NPHP3)
ENST00000490993.5:n.3596C>T (NPHP3)
NM_153240.4:c.2871C>T (NPHP3)	NP_694972.3:p.Gly957=
NR_037804.1:n.2877C>T (NPHP3-ACAD11)
NM_153240.5:c.2871C>T (NPHP3) MANE Select	NP_694972.3:p.Gly957=