Canonical Allele Identifier: CA554739
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 288173
dbSNP Id: rs201124357
gnomAD v2: 1-6012770-T-A
gnomAD v3: 1-5952710-T-A
gnomAD v4: 1-5952710-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5952710T>A , CM000663.2:g.5952710T>A GRCh38
NC_000001.10:g.6012770T>A , CM000663.1:g.6012770T>A GRCh37
NC_000001.9:g.5935357T>A NCBI36
NG_011724.2:g.44762A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.800A>T MANE Select ENSP00000367398.4:p.His267Leu
ENST00000378156.8:c.800A>T ENSP00000367398.4:p.His267Leu
ENST00000378169.7:c.674-4459A>T ENSP00000367411.3:n.674-4459A>T
ENST00000478423.6:n.702A>T
ENST00000489180.6:c.800A>T ENSP00000423747.1:p.His267Leu
ENST00000622020.4:c.800A>T ENSP00000481831.2:p.His267Leu
NM_001291593.1:c.-556-4459A>T NP_001278522.1:n.-556-4459A>T
NM_001291594.1:c.-567A>T NP_001278523.1:n.-567A>T
NM_015102.4:c.800A>T NP_055917.1:p.His267Leu
NR_111987.1:n.1068A>T
XM_006710563.2:c.800A>T XP_006710626.1:p.His267Leu
XM_006710565.2:c.800A>T XP_006710628.1:p.His267Leu
XM_011541213.1:c.800A>T XP_011539515.1:p.His267Leu
XM_011541214.1:c.800A>T XP_011539516.1:p.His267Leu
XM_011541215.1:c.800A>T XP_011539517.1:p.His267Leu
XM_011541216.1:c.800A>T XP_011539518.1:p.His267Leu
XM_011541217.1:c.800A>T XP_011539519.1:p.His267Leu
XM_011541218.1:c.800A>T XP_011539520.1:p.His267Leu
XM_011541219.1:c.746A>T XP_011539521.1:p.His249Leu
XM_011541220.1:c.800A>T XP_011539522.1:p.His267Leu
XR_946604.1:n.838A>T
XR_946605.1:n.838A>T
XM_006710563.3:c.800A>T XP_006710626.1:p.His267Leu
XM_011541216.2:c.800A>T XP_011539518.1:p.His267Leu
XM_011541217.2:c.800A>T XP_011539519.1:p.His267Leu
XM_011541218.2:c.800A>T XP_011539520.1:p.His267Leu
XM_017000996.1:c.800A>T XP_016856485.1:p.His267Leu
XM_017000997.1:c.800A>T XP_016856486.1:p.His267Leu
XM_017000998.1:c.800A>T XP_016856487.1:p.His267Leu
XM_017000999.1:c.272A>T XP_016856488.1:p.His91Leu
XM_017001000.2:c.272A>T XP_016856489.1:p.His91Leu
XM_017001001.1:c.13-4459A>T XP_016856490.1:n.13-4459A>T
XM_017001002.1:c.800A>T XP_016856491.1:p.His267Leu
XM_017001003.1:c.-567A>T XP_016856492.1:n.-567A>T
XR_001737114.1:n.838A>T
XR_001737115.1:n.838A>T
NM_015102.5:c.800A>T MANE Select NP_055917.1:p.His267Leu
NM_001291593.2:c.-556-4459A>T NP_001278522.1:n.-556-4459A>T
NM_001291594.2:c.-567A>T NP_001278523.1:n.-567A>T
NR_111987.2:n.1020A>T