Canonical Allele Identifier: CA338048816
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863907T>C , CM000663.2:g.5863907T>C GRCh38
NC_000001.10:g.5923967T>C , CM000663.1:g.5923967T>C GRCh37
NC_000001.9:g.5846554T>C NCBI36
NG_011724.2:g.133565A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4123A>G MANE Select ENSP00000367398.4:p.Arg1375Gly
ENST00000378156.8:c.4123A>G ENSP00000367398.4:p.Arg1375Gly
ENST00000378161.5:n.3274A>G
ENST00000378169.7:c.*3024A>G ENSP00000367411.3:n.*3024A>G
ENST00000460696.1:n.2871A>G
ENST00000478423.6:n.3855A>G
ENST00000489180.6:c.*1934A>G ENSP00000423747.1:n.*1934A>G
NM_001291593.1:c.2584A>G NP_001278522.1:p.Arg862Gly
NM_001291594.1:c.2587A>G NP_001278523.1:p.Arg863Gly
NM_015102.4:c.4123A>G NP_055917.1:p.Arg1375Gly
NR_111987.1:n.4938A>G
XM_006710563.2:c.4123A>G XP_006710626.1:p.Arg1375Gly
XM_006710565.2:c.4123A>G XP_006710628.1:p.Arg1375Gly
XM_011541213.1:c.4120A>G XP_011539515.1:p.Arg1374Gly
XM_011541214.1:c.4081A>G XP_011539516.1:p.Arg1361Gly
XM_011541215.1:c.4012A>G XP_011539517.1:p.Arg1338Gly
XM_011541216.1:c.4123A>G XP_011539518.1:p.Arg1375Gly
XM_011541217.1:c.4123A>G XP_011539519.1:p.Arg1375Gly
XM_011541218.1:c.4123A>G XP_011539520.1:p.Arg1375Gly
XM_011541219.1:c.4069A>G XP_011539521.1:p.Arg1357Gly
XM_006710563.3:c.4123A>G XP_006710626.1:p.Arg1375Gly
XM_011541216.2:c.4123A>G XP_011539518.1:p.Arg1375Gly
XM_011541217.2:c.4123A>G XP_011539519.1:p.Arg1375Gly
XM_011541218.2:c.4123A>G XP_011539520.1:p.Arg1375Gly
XM_017000996.1:c.4078A>G XP_016856485.1:p.Arg1360Gly
XM_017000997.1:c.4123A>G XP_016856486.1:p.Arg1375Gly
XM_017000999.1:c.3595A>G XP_016856488.1:p.Arg1199Gly
XM_017001000.2:c.3595A>G XP_016856489.1:p.Arg1199Gly
XM_017001001.1:c.3325A>G XP_016856490.1:p.Arg1109Gly
XM_017001003.1:c.2584A>G XP_016856492.1:p.Arg862Gly
XR_001737114.1:n.3989A>G
XR_001737115.1:n.3974A>G
NM_015102.5:c.4123A>G MANE Select NP_055917.1:p.Arg1375Gly
NM_001291593.2:c.2584A>G NP_001278522.1:p.Arg862Gly
NM_001291594.2:c.2587A>G NP_001278523.1:p.Arg863Gly
NR_111987.2:n.4890A>G