Canonical Allele Identifier: CA17124865

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 2008421
• ClinVar RCV Id: RCV002816592
• dbSNP Id: rs918025791
• gnomAD v2: 1-5924064-T-C
• gnomAD v4: 1-5864004-T-C
• MyVariant Identifiers: chr1:g.5924064T>C (hg19) ; chr1:g.5864004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864004T>C , CM000663.2:g.5864004T>C	GRCh38
NC_000001.10:g.5924064T>C , CM000663.1:g.5924064T>C	GRCh37
NC_000001.9:g.5846651T>C	NCBI36
NG_011724.2:g.133468A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4026A>G MANE Select	ENSP00000367398.4:p.Glu1342=
ENST00000378156.8:c.4026A>G	ENSP00000367398.4:p.Glu1342=
ENST00000378161.5:n.3177A>G
ENST00000378169.7:c.*2927A>G	ENSP00000367411.3:n.*2927A>G
ENST00000460696.1:n.2774A>G
ENST00000478423.6:n.3758A>G
ENST00000489180.6:c.*1837A>G	ENSP00000423747.1:n.*1837A>G
NM_001291593.1:c.2487A>G	NP_001278522.1:p.Glu829=
NM_001291594.1:c.2490A>G	NP_001278523.1:p.Glu830=
NM_015102.4:c.4026A>G	NP_055917.1:p.Glu1342=
NR_111987.1:n.4841A>G
XM_006710563.2:c.4026A>G	XP_006710626.1:p.Glu1342=
XM_006710565.2:c.4026A>G	XP_006710628.1:p.Glu1342=
XM_011541213.1:c.4023A>G	XP_011539515.1:p.Glu1341=
XM_011541214.1:c.3984A>G	XP_011539516.1:p.Glu1328=
XM_011541215.1:c.3915A>G	XP_011539517.1:p.Glu1305=
XM_011541216.1:c.4026A>G	XP_011539518.1:p.Glu1342=
XM_011541217.1:c.4026A>G	XP_011539519.1:p.Glu1342=
XM_011541218.1:c.4026A>G	XP_011539520.1:p.Glu1342=
XM_011541219.1:c.3972A>G	XP_011539521.1:p.Glu1324=
XM_006710563.3:c.4026A>G	XP_006710626.1:p.Glu1342=
XM_011541216.2:c.4026A>G	XP_011539518.1:p.Glu1342=
XM_011541217.2:c.4026A>G	XP_011539519.1:p.Glu1342=
XM_011541218.2:c.4026A>G	XP_011539520.1:p.Glu1342=
XM_017000996.1:c.3981A>G	XP_016856485.1:p.Glu1327=
XM_017000997.1:c.4026A>G	XP_016856486.1:p.Glu1342=
XM_017000999.1:c.3498A>G	XP_016856488.1:p.Glu1166=
XM_017001000.2:c.3498A>G	XP_016856489.1:p.Glu1166=
XM_017001001.1:c.3228A>G	XP_016856490.1:p.Glu1076=
XM_017001003.1:c.2487A>G	XP_016856492.1:p.Glu829=
XR_001737114.1:n.3892A>G
XR_001737115.1:n.3877A>G
NM_015102.5:c.4026A>G MANE Select	NP_055917.1:p.Glu1342=
NM_001291593.2:c.2487A>G	NP_001278522.1:p.Glu829=
NM_001291594.2:c.2490A>G	NP_001278523.1:p.Glu830=
NR_111987.2:n.4793A>G