Canonical Allele Identifier: CA338049205

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 1986817
• ClinVar RCV Id: RCV002805611
• dbSNP Id: rs769051741
• gnomAD v4: 1-5864006-C-T
• MyVariant Identifiers: chr1:g.5924066C>T (hg19) ; chr1:g.5864006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864006C>T , CM000663.2:g.5864006C>T	GRCh38
NC_000001.10:g.5924066C>T , CM000663.1:g.5924066C>T	GRCh37
NC_000001.9:g.5846653C>T	NCBI36
NG_011724.2:g.133466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4024G>A MANE Select	ENSP00000367398.4:p.Glu1342Lys
ENST00000378156.8:c.4024G>A	ENSP00000367398.4:p.Glu1342Lys
ENST00000378161.5:n.3175G>A
ENST00000378169.7:c.*2925G>A	ENSP00000367411.3:n.*2925G>A
ENST00000460696.1:n.2772G>A
ENST00000478423.6:n.3756G>A
ENST00000489180.6:c.*1835G>A	ENSP00000423747.1:n.*1835G>A
NM_001291593.1:c.2485G>A	NP_001278522.1:p.Glu829Lys
NM_001291594.1:c.2488G>A	NP_001278523.1:p.Glu830Lys
NM_015102.4:c.4024G>A	NP_055917.1:p.Glu1342Lys
NR_111987.1:n.4839G>A
XM_006710563.2:c.4024G>A	XP_006710626.1:p.Glu1342Lys
XM_006710565.2:c.4024G>A	XP_006710628.1:p.Glu1342Lys
XM_011541213.1:c.4021G>A	XP_011539515.1:p.Glu1341Lys
XM_011541214.1:c.3982G>A	XP_011539516.1:p.Glu1328Lys
XM_011541215.1:c.3913G>A	XP_011539517.1:p.Glu1305Lys
XM_011541216.1:c.4024G>A	XP_011539518.1:p.Glu1342Lys
XM_011541217.1:c.4024G>A	XP_011539519.1:p.Glu1342Lys
XM_011541218.1:c.4024G>A	XP_011539520.1:p.Glu1342Lys
XM_011541219.1:c.3970G>A	XP_011539521.1:p.Glu1324Lys
XM_006710563.3:c.4024G>A	XP_006710626.1:p.Glu1342Lys
XM_011541216.2:c.4024G>A	XP_011539518.1:p.Glu1342Lys
XM_011541217.2:c.4024G>A	XP_011539519.1:p.Glu1342Lys
XM_011541218.2:c.4024G>A	XP_011539520.1:p.Glu1342Lys
XM_017000996.1:c.3979G>A	XP_016856485.1:p.Glu1327Lys
XM_017000997.1:c.4024G>A	XP_016856486.1:p.Glu1342Lys
XM_017000999.1:c.3496G>A	XP_016856488.1:p.Glu1166Lys
XM_017001000.2:c.3496G>A	XP_016856489.1:p.Glu1166Lys
XM_017001001.1:c.3226G>A	XP_016856490.1:p.Glu1076Lys
XM_017001003.1:c.2485G>A	XP_016856492.1:p.Glu829Lys
XR_001737114.1:n.3890G>A
XR_001737115.1:n.3875G>A
NM_015102.5:c.4024G>A MANE Select	NP_055917.1:p.Glu1342Lys
NM_001291593.2:c.2485G>A	NP_001278522.1:p.Glu829Lys
NM_001291594.2:c.2488G>A	NP_001278523.1:p.Glu830Lys
NR_111987.2:n.4791G>A