Canonical Allele Identifier: CA338049324
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.3998C>T MANE Select ENSP00000367398.4:p.Ala1333Val
ENST00000378156.8:c.3998C>T ENSP00000367398.4:p.Ala1333Val
ENST00000378161.5:n.3149C>T
ENST00000378169.7:c.*2899C>T ENSP00000367411.3:n.*2899C>T
ENST00000460696.1:n.2746C>T
ENST00000478423.6:n.3730C>T
ENST00000489180.6:c.*1809C>T ENSP00000423747.1:n.*1809C>T
NM_001291593.1:c.2459C>T NP_001278522.1:p.Ala820Val
NM_001291594.1:c.2462C>T NP_001278523.1:p.Ala821Val
NM_015102.4:c.3998C>T NP_055917.1:p.Ala1333Val
NR_111987.1:n.4813C>T
XM_006710563.2:c.3998C>T XP_006710626.1:p.Ala1333Val
XM_006710565.2:c.3998C>T XP_006710628.1:p.Ala1333Val
XM_011541213.1:c.3995C>T XP_011539515.1:p.Ala1332Val
XM_011541214.1:c.3956C>T XP_011539516.1:p.Ala1319Val
XM_011541215.1:c.3887C>T XP_011539517.1:p.Ala1296Val
XM_011541216.1:c.3998C>T XP_011539518.1:p.Ala1333Val
XM_011541217.1:c.3998C>T XP_011539519.1:p.Ala1333Val
XM_011541218.1:c.3998C>T XP_011539520.1:p.Ala1333Val
XM_011541219.1:c.3944C>T XP_011539521.1:p.Ala1315Val
XM_006710563.3:c.3998C>T XP_006710626.1:p.Ala1333Val
XM_011541216.2:c.3998C>T XP_011539518.1:p.Ala1333Val
XM_011541217.2:c.3998C>T XP_011539519.1:p.Ala1333Val
XM_011541218.2:c.3998C>T XP_011539520.1:p.Ala1333Val
XM_017000996.1:c.3953C>T XP_016856485.1:p.Ala1318Val
XM_017000997.1:c.3998C>T XP_016856486.1:p.Ala1333Val
XM_017000999.1:c.3470C>T XP_016856488.1:p.Ala1157Val
XM_017001000.2:c.3470C>T XP_016856489.1:p.Ala1157Val
XM_017001001.1:c.3200C>T XP_016856490.1:p.Ala1067Val
XM_017001003.1:c.2459C>T XP_016856492.1:p.Ala820Val
XR_001737114.1:n.3864C>T
XR_001737115.1:n.3849C>T
NM_015102.5:c.3998C>T MANE Select NP_055917.1:p.Ala1333Val
NM_001291593.2:c.2459C>T NP_001278522.1:p.Ala820Val
NM_001291594.2:c.2462C>T NP_001278523.1:p.Ala821Val
NR_111987.2:n.4765C>T