Canonical Allele Identifier: CA436088706

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1228959643
• gnomAD v3: 3-132689248-C-T
• gnomAD v4: 3-132689248-C-T
• MyVariant Identifiers: chr3:g.132408092C>T (hg19) ; chr3:g.132689248C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689248C>T , CM000665.2:g.132689248C>T	GRCh38
NC_000003.11:g.132408092C>T , CM000665.1:g.132408092C>T	GRCh37
NC_000003.10:g.133890782C>T	NCBI36
NG_008130.1:g.38185G>A
NG_008130.2:g.38185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*617G>A (NPHP3)	ENSP00000508078.1:n.*617G>A
ENST00000337331.10:c.2709G>A (NPHP3) MANE Select	ENSP00000338766.5:p.Glu903=
ENST00000337331.9:c.2709G>A (NPHP3)	ENSP00000338766.5:p.Glu903=
ENST00000465756.5:c.*617G>A (NPHP3)	ENSP00000419907.1:n.*617G>A
ENST00000471702.2:c.*700G>A (NPHP3-ACAD11)	ENSP00000419763.1:n.*700G>A
ENST00000474871.5:n.443G>A (NPHP3)
ENST00000490993.5:n.3434G>A (NPHP3)
NM_153240.4:c.2709G>A (NPHP3)	NP_694972.3:p.Glu903=
NR_037804.1:n.2715G>A (NPHP3-ACAD11)
NM_153240.5:c.2709G>A (NPHP3) MANE Select	NP_694972.3:p.Glu903=