Canonical Allele Identifier: CA415787044
Gene: NPHP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.5924073A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864013A>T , CM000663.2:g.5864013A>T GRCh38
NC_000001.10:g.5924073A>T , CM000663.1:g.5924073A>T GRCh37
NC_000001.9:g.5846660A>T NCBI36
NG_011724.2:g.133459T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4017T>A MANE Select ENSP00000367398.4:p.Ala1339=
ENST00000378156.8:c.4017T>A ENSP00000367398.4:p.Ala1339=
ENST00000378161.5:n.3168T>A
ENST00000378169.7:c.*2918T>A ENSP00000367411.3:n.*2918T>A
ENST00000460696.1:n.2765T>A
ENST00000478423.6:n.3749T>A
ENST00000489180.6:c.*1828T>A ENSP00000423747.1:n.*1828T>A
NM_001291593.1:c.2478T>A NP_001278522.1:p.Ala826=
NM_001291594.1:c.2481T>A NP_001278523.1:p.Ala827=
NM_015102.4:c.4017T>A NP_055917.1:p.Ala1339=
NR_111987.1:n.4832T>A
XM_006710563.2:c.4017T>A XP_006710626.1:p.Ala1339=
XM_006710565.2:c.4017T>A XP_006710628.1:p.Ala1339=
XM_011541213.1:c.4014T>A XP_011539515.1:p.Ala1338=
XM_011541214.1:c.3975T>A XP_011539516.1:p.Ala1325=
XM_011541215.1:c.3906T>A XP_011539517.1:p.Ala1302=
XM_011541216.1:c.4017T>A XP_011539518.1:p.Ala1339=
XM_011541217.1:c.4017T>A XP_011539519.1:p.Ala1339=
XM_011541218.1:c.4017T>A XP_011539520.1:p.Ala1339=
XM_011541219.1:c.3963T>A XP_011539521.1:p.Ala1321=
XM_006710563.3:c.4017T>A XP_006710626.1:p.Ala1339=
XM_011541216.2:c.4017T>A XP_011539518.1:p.Ala1339=
XM_011541217.2:c.4017T>A XP_011539519.1:p.Ala1339=
XM_011541218.2:c.4017T>A XP_011539520.1:p.Ala1339=
XM_017000996.1:c.3972T>A XP_016856485.1:p.Ala1324=
XM_017000997.1:c.4017T>A XP_016856486.1:p.Ala1339=
XM_017000999.1:c.3489T>A XP_016856488.1:p.Ala1163=
XM_017001000.2:c.3489T>A XP_016856489.1:p.Ala1163=
XM_017001001.1:c.3219T>A XP_016856490.1:p.Ala1073=
XM_017001003.1:c.2478T>A XP_016856492.1:p.Ala826=
XR_001737114.1:n.3883T>A
XR_001737115.1:n.3868T>A
NM_015102.5:c.4017T>A MANE Select NP_055917.1:p.Ala1339=
NM_001291593.2:c.2478T>A NP_001278522.1:p.Ala826=
NM_001291594.2:c.2481T>A NP_001278523.1:p.Ala827=
NR_111987.2:n.4784T>A