Canonical Allele Identifier: CA435797321

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 1986634
• ClinVar RCV Id: RCV002770657
• dbSNP Id: rs1939575236
• gnomAD v4: 3-132700414-G-A
• MyVariant Identifiers: chr3:g.132419258G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700414G>A , CM000665.2:g.132700414G>A	GRCh38
NC_000003.11:g.132419258G>A , CM000665.1:g.132419258G>A	GRCh37
NC_000003.10:g.133901948G>A	NCBI36
NG_008130.1:g.27019C>T
NG_008130.2:g.27019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1369C>T (NPHP3)	ENSP00000508078.1:p.Leu457=
ENST00000337331.10:c.1663C>T (NPHP3) MANE Select	ENSP00000338766.5:p.Leu555=
ENST00000337331.9:c.1663C>T (NPHP3)	ENSP00000338766.5:p.Leu555=
ENST00000465756.5:c.1369C>T (NPHP3)	ENSP00000419907.1:p.Leu457=
ENST00000469232.5:c.1478C>T (NPHP3)	ENSP00000418664.1:n.1478C>T
ENST00000471702.2:c.1663C>T (NPHP3-ACAD11)	ENSP00000419763.1:p.Leu555=
ENST00000490993.5:n.1439C>T (NPHP3)
NM_153240.4:c.1663C>T (NPHP3)	NP_694972.3:p.Leu555=
NR_037804.1:n.1767C>T (NPHP3-ACAD11)
NM_153240.5:c.1663C>T (NPHP3) MANE Select	NP_694972.3:p.Leu555=