Canonical Allele Identifier: CA354583153

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1939577062
• gnomAD v4: 3-132700448-C-A
• MyVariant Identifiers: chr3:g.132419292C>A (hg19) ; chr3:g.132700448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700448C>A , CM000665.2:g.132700448C>A	GRCh38
NC_000003.11:g.132419292C>A , CM000665.1:g.132419292C>A	GRCh37
NC_000003.10:g.133901982C>A	NCBI36
NG_008130.1:g.26985G>T
NG_008130.2:g.26985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1335G>T (NPHP3)	ENSP00000508078.1:p.Trp445Cys
ENST00000337331.10:c.1629G>T (NPHP3) MANE Select	ENSP00000338766.5:p.Trp543Cys
ENST00000337331.9:c.1629G>T (NPHP3)	ENSP00000338766.5:p.Trp543Cys
ENST00000465756.5:c.1335G>T (NPHP3)	ENSP00000419907.1:p.Trp445Cys
ENST00000469232.5:c.1444G>T (NPHP3)	ENSP00000418664.1:n.1444G>T
ENST00000471702.2:c.1629G>T (NPHP3-ACAD11)	ENSP00000419763.1:p.Trp543Cys
ENST00000490993.5:n.1405G>T (NPHP3)
NM_153240.4:c.1629G>T (NPHP3)	NP_694972.3:p.Trp543Cys
NR_037804.1:n.1733G>T (NPHP3-ACAD11)
NM_153240.5:c.1629G>T (NPHP3) MANE Select	NP_694972.3:p.Trp543Cys