Canonical Allele Identifier: CA2621929

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs781641225
• ExAC: 3:132408020 C / A
• MyVariant Identifiers: chr3:g.132408020C>A (hg19) ; chr3:g.132689176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689176C>A , CM000665.2:g.132689176C>A	GRCh38
NC_000003.11:g.132408020C>A , CM000665.1:g.132408020C>A	GRCh37
NC_000003.10:g.133890710C>A	NCBI36
NG_008130.1:g.38257G>T
NG_008130.2:g.38257G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*689G>T (NPHP3)	ENSP00000508078.1:n.*689G>T
ENST00000337331.10:c.2781G>T (NPHP3) MANE Select	ENSP00000338766.5:p.Lys927Asn
ENST00000337331.9:c.2781G>T (NPHP3)	ENSP00000338766.5:p.Lys927Asn
ENST00000465756.5:c.*689G>T (NPHP3)	ENSP00000419907.1:n.*689G>T
ENST00000471702.2:c.*772G>T (NPHP3-ACAD11)	ENSP00000419763.1:n.*772G>T
ENST00000474871.5:n.515G>T (NPHP3)
ENST00000490993.5:n.3506G>T (NPHP3)
NM_153240.4:c.2781G>T (NPHP3)	NP_694972.3:p.Lys927Asn
NR_037804.1:n.2787G>T (NPHP3-ACAD11)
NM_153240.5:c.2781G>T (NPHP3) MANE Select	NP_694972.3:p.Lys927Asn