Canonical Allele Identifier: CA338049331
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864033C>A , CM000663.2:g.5864033C>A GRCh38
NC_000001.10:g.5924093C>A , CM000663.1:g.5924093C>A GRCh37
NC_000001.9:g.5846680C>A NCBI36
NG_011724.2:g.133439G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.3997G>T MANE Select ENSP00000367398.4:p.Ala1333Ser
ENST00000378156.8:c.3997G>T ENSP00000367398.4:p.Ala1333Ser
ENST00000378161.5:n.3148G>T
ENST00000378169.7:c.*2898G>T ENSP00000367411.3:n.*2898G>T
ENST00000460696.1:n.2745G>T
ENST00000478423.6:n.3729G>T
ENST00000489180.6:c.*1808G>T ENSP00000423747.1:n.*1808G>T
NM_001291593.1:c.2458G>T NP_001278522.1:p.Ala820Ser
NM_001291594.1:c.2461G>T NP_001278523.1:p.Ala821Ser
NM_015102.4:c.3997G>T NP_055917.1:p.Ala1333Ser
NR_111987.1:n.4812G>T
XM_006710563.2:c.3997G>T XP_006710626.1:p.Ala1333Ser
XM_006710565.2:c.3997G>T XP_006710628.1:p.Ala1333Ser
XM_011541213.1:c.3994G>T XP_011539515.1:p.Ala1332Ser
XM_011541214.1:c.3955G>T XP_011539516.1:p.Ala1319Ser
XM_011541215.1:c.3886G>T XP_011539517.1:p.Ala1296Ser
XM_011541216.1:c.3997G>T XP_011539518.1:p.Ala1333Ser
XM_011541217.1:c.3997G>T XP_011539519.1:p.Ala1333Ser
XM_011541218.1:c.3997G>T XP_011539520.1:p.Ala1333Ser
XM_011541219.1:c.3943G>T XP_011539521.1:p.Ala1315Ser
XM_006710563.3:c.3997G>T XP_006710626.1:p.Ala1333Ser
XM_011541216.2:c.3997G>T XP_011539518.1:p.Ala1333Ser
XM_011541217.2:c.3997G>T XP_011539519.1:p.Ala1333Ser
XM_011541218.2:c.3997G>T XP_011539520.1:p.Ala1333Ser
XM_017000996.1:c.3952G>T XP_016856485.1:p.Ala1318Ser
XM_017000997.1:c.3997G>T XP_016856486.1:p.Ala1333Ser
XM_017000999.1:c.3469G>T XP_016856488.1:p.Ala1157Ser
XM_017001000.2:c.3469G>T XP_016856489.1:p.Ala1157Ser
XM_017001001.1:c.3199G>T XP_016856490.1:p.Ala1067Ser
XM_017001003.1:c.2458G>T XP_016856492.1:p.Ala820Ser
XR_001737114.1:n.3863G>T
XR_001737115.1:n.3848G>T
NM_015102.5:c.3997G>T MANE Select NP_055917.1:p.Ala1333Ser
NM_001291593.2:c.2458G>T NP_001278522.1:p.Ala820Ser
NM_001291594.2:c.2461G>T NP_001278523.1:p.Ala821Ser
NR_111987.2:n.4764G>T