Canonical Allele Identifier: CA354580355

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1175989491
• gnomAD v2: 3-132407964-T-C
• gnomAD v4: 3-132689120-T-C
• MyVariant Identifiers: chr3:g.132407964T>C (hg19) ; chr3:g.132689120T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132689120T>C , CM000665.2:g.132689120T>C	GRCh38
NC_000003.11:g.132407964T>C , CM000665.1:g.132407964T>C	GRCh37
NC_000003.10:g.133890654T>C	NCBI36
NG_008130.1:g.38313A>G
NG_008130.2:g.38313A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684294.1:c.*745A>G (NPHP3)	ENSP00000508078.1:n.*745A>G
ENST00000337331.10:c.2837A>G (NPHP3) MANE Select	ENSP00000338766.5:p.Tyr946Cys
ENST00000337331.9:c.2837A>G (NPHP3)	ENSP00000338766.5:p.Tyr946Cys
ENST00000465756.5:c.*745A>G (NPHP3)	ENSP00000419907.1:n.*745A>G
ENST00000471702.2:c.*828A>G (NPHP3-ACAD11)	ENSP00000419763.1:n.*828A>G
ENST00000474871.5:n.571A>G (NPHP3)
ENST00000490993.5:n.3562A>G (NPHP3)
NM_153240.4:c.2837A>G (NPHP3)	NP_694972.3:p.Tyr946Cys
NR_037804.1:n.2843A>G (NPHP3-ACAD11)
NM_153240.5:c.2837A>G (NPHP3) MANE Select	NP_694972.3:p.Tyr946Cys