Canonical Allele Identifier: CA1148271837
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864058C= , CM000663.2:g.5864058C= GRCh38
NC_000001.10:g.5924118C= , CM000663.1:g.5924118C= GRCh37
NC_000001.9:g.5846705C= NCBI36
NG_011724.2:g.133414G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.3997-25G= MANE Select ENSP00000367398.4:n.3997-25G=
ENST00000378156.8:c.3997-25G= ENSP00000367398.4:n.3997-25G=
ENST00000378161.5:n.3123G=
ENST00000378169.7:c.*2898-25G= ENSP00000367411.3:n.*2898-25G=
ENST00000460696.1:n.2745-25G=
ENST00000478423.6:n.3729-25G=
ENST00000489180.6:c.*1808-25G= ENSP00000423747.1:n.*1808-25G=
NM_001291593.1:c.2458-25G= NP_001278522.1:n.2458-25G=
NM_001291594.1:c.2461-25G= NP_001278523.1:n.2461-25G=
NM_015102.4:c.3997-25G= NP_055917.1:n.3997-25G=
NR_111987.1:n.4812-25G=
XM_006710563.2:c.3997-25G= XP_006710626.1:n.3997-25G=
XM_006710565.2:c.3997-25G= XP_006710628.1:n.3997-25G=
XM_011541213.1:c.3994-25G= XP_011539515.1:n.3994-25G=
XM_011541214.1:c.3955-25G= XP_011539516.1:n.3955-25G=
XM_011541215.1:c.3886-25G= XP_011539517.1:n.3886-25G=
XM_011541216.1:c.3997-25G= XP_011539518.1:n.3997-25G=
XM_011541217.1:c.3997-25G= XP_011539519.1:n.3997-25G=
XM_011541218.1:c.3997-25G= XP_011539520.1:n.3997-25G=
XM_011541219.1:c.3943-25G= XP_011539521.1:n.3943-25G=
XM_006710563.3:c.3997-25G= XP_006710626.1:n.3997-25G=
XM_011541216.2:c.3997-25G= XP_011539518.1:n.3997-25G=
XM_011541217.2:c.3997-25G= XP_011539519.1:n.3997-25G=
XM_011541218.2:c.3997-25G= XP_011539520.1:n.3997-25G=
XM_017000996.1:c.3952-25G= XP_016856485.1:n.3952-25G=
XM_017000997.1:c.3997-25G= XP_016856486.1:n.3997-25G=
XM_017000999.1:c.3469-25G= XP_016856488.1:n.3469-25G=
XM_017001000.2:c.3469-25G= XP_016856489.1:n.3469-25G=
XM_017001001.1:c.3199-25G= XP_016856490.1:n.3199-25G=
XM_017001003.1:c.2458-25G= XP_016856492.1:n.2458-25G=
XR_001737114.1:n.3863-25G=
XR_001737115.1:n.3848-25G=
NM_015102.5:c.3997-25G= MANE Select NP_055917.1:n.3997-25G=
NM_001291593.2:c.2458-25G= NP_001278522.1:n.2458-25G=
NM_001291594.2:c.2461-25G= NP_001278523.1:n.2461-25G=
NR_111987.2:n.4764-25G=