Canonical Allele Identifier: CA2622431

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 262691
• ClinVar RCV Id: RCV000252767 ; RCV001038847
• dbSNP Id: rs372145755
• ExAC: 3:132432061 T / C
• gnomAD v2: 3-132432061-T-C
• gnomAD v3: 3-132713217-T-C
• gnomAD v4: 3-132713217-T-C
• MyVariant Identifiers: chr3:g.132432061T>C (hg19) ; chr3:g.132713217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132713217T>C , CM000665.2:g.132713217T>C	GRCh38
NC_000003.11:g.132432061T>C , CM000665.1:g.132432061T>C	GRCh37
NC_000003.10:g.133914751T>C	NCBI36
NG_008130.1:g.14216A>G
NG_008130.2:g.14216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.733A>G (NPHP3)	ENSP00000508078.1:p.Ile245Val
ENST00000337331.10:c.1027A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Ile343Val
ENST00000337331.9:c.1027A>G (NPHP3)	ENSP00000338766.5:p.Ile343Val
ENST00000465756.5:c.733A>G (NPHP3)	ENSP00000419907.1:p.Ile245Val
ENST00000469232.5:c.842A>G (NPHP3)	ENSP00000418664.1:n.842A>G
ENST00000471702.2:c.1027A>G (NPHP3-ACAD11)	ENSP00000419763.1:p.Ile343Val
ENST00000476742.1:n.261A>G (NPHP3)
ENST00000490993.5:n.803A>G (NPHP3)
NM_153240.4:c.1027A>G (NPHP3)	NP_694972.3:p.Ile343Val
NR_037804.1:n.1131A>G (NPHP3-ACAD11)
NM_153240.5:c.1027A>G (NPHP3) MANE Select	NP_694972.3:p.Ile343Val