Canonical Allele Identifier: CA338049325
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1431959
ClinVar RCV Id: RCV001941020
dbSNP Id: rs2100375514

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864032G>C , CM000663.2:g.5864032G>C GRCh38
NC_000001.10:g.5924092G>C , CM000663.1:g.5924092G>C GRCh37
NC_000001.9:g.5846679G>C NCBI36
NG_011724.2:g.133440C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.3998C>G MANE Select ENSP00000367398.4:p.Ala1333Gly
ENST00000378156.8:c.3998C>G ENSP00000367398.4:p.Ala1333Gly
ENST00000378161.5:n.3149C>G
ENST00000378169.7:c.*2899C>G ENSP00000367411.3:n.*2899C>G
ENST00000460696.1:n.2746C>G
ENST00000478423.6:n.3730C>G
ENST00000489180.6:c.*1809C>G ENSP00000423747.1:n.*1809C>G
NM_001291593.1:c.2459C>G NP_001278522.1:p.Ala820Gly
NM_001291594.1:c.2462C>G NP_001278523.1:p.Ala821Gly
NM_015102.4:c.3998C>G NP_055917.1:p.Ala1333Gly
NR_111987.1:n.4813C>G
XM_006710563.2:c.3998C>G XP_006710626.1:p.Ala1333Gly
XM_006710565.2:c.3998C>G XP_006710628.1:p.Ala1333Gly
XM_011541213.1:c.3995C>G XP_011539515.1:p.Ala1332Gly
XM_011541214.1:c.3956C>G XP_011539516.1:p.Ala1319Gly
XM_011541215.1:c.3887C>G XP_011539517.1:p.Ala1296Gly
XM_011541216.1:c.3998C>G XP_011539518.1:p.Ala1333Gly
XM_011541217.1:c.3998C>G XP_011539519.1:p.Ala1333Gly
XM_011541218.1:c.3998C>G XP_011539520.1:p.Ala1333Gly
XM_011541219.1:c.3944C>G XP_011539521.1:p.Ala1315Gly
XM_006710563.3:c.3998C>G XP_006710626.1:p.Ala1333Gly
XM_011541216.2:c.3998C>G XP_011539518.1:p.Ala1333Gly
XM_011541217.2:c.3998C>G XP_011539519.1:p.Ala1333Gly
XM_011541218.2:c.3998C>G XP_011539520.1:p.Ala1333Gly
XM_017000996.1:c.3953C>G XP_016856485.1:p.Ala1318Gly
XM_017000997.1:c.3998C>G XP_016856486.1:p.Ala1333Gly
XM_017000999.1:c.3470C>G XP_016856488.1:p.Ala1157Gly
XM_017001000.2:c.3470C>G XP_016856489.1:p.Ala1157Gly
XM_017001001.1:c.3200C>G XP_016856490.1:p.Ala1067Gly
XM_017001003.1:c.2459C>G XP_016856492.1:p.Ala820Gly
XR_001737114.1:n.3864C>G
XR_001737115.1:n.3849C>G
NM_015102.5:c.3998C>G MANE Select NP_055917.1:p.Ala1333Gly
NM_001291593.2:c.2459C>G NP_001278522.1:p.Ala820Gly
NM_001291594.2:c.2462C>G NP_001278523.1:p.Ala821Gly
NR_111987.2:n.4765C>G