Canonical Allele Identifier: CA2622238

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs769319557
• ExAC: 3:132419288 G / T
• gnomAD v2: 3-132419288-G-T
• gnomAD v3: 3-132700444-G-T
• gnomAD v4: 3-132700444-G-T
• MyVariant Identifiers: chr3:g.132419288G>T (hg19) ; chr3:g.132700444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132700444G>T , CM000665.2:g.132700444G>T	GRCh38
NC_000003.11:g.132419288G>T , CM000665.1:g.132419288G>T	GRCh37
NC_000003.10:g.133901978G>T	NCBI36
NG_008130.1:g.26989C>A
NG_008130.2:g.26989C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.1339C>A (NPHP3)	ENSP00000508078.1:p.Gln447Lys
ENST00000337331.10:c.1633C>A (NPHP3) MANE Select	ENSP00000338766.5:p.Gln545Lys
ENST00000337331.9:c.1633C>A (NPHP3)	ENSP00000338766.5:p.Gln545Lys
ENST00000465756.5:c.1339C>A (NPHP3)	ENSP00000419907.1:p.Gln447Lys
ENST00000469232.5:c.1448C>A (NPHP3)	ENSP00000418664.1:n.1448C>A
ENST00000471702.2:c.1633C>A (NPHP3-ACAD11)	ENSP00000419763.1:p.Gln545Lys
ENST00000490993.5:n.1409C>A (NPHP3)
NM_153240.4:c.1633C>A (NPHP3)	NP_694972.3:p.Gln545Lys
NR_037804.1:n.1737C>A (NPHP3-ACAD11)
NM_153240.5:c.1633C>A (NPHP3) MANE Select	NP_694972.3:p.Gln545Lys