Canonical Allele Identifier: CA338049213
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864009C>A , CM000663.2:g.5864009C>A GRCh38
NC_000001.10:g.5924069C>A , CM000663.1:g.5924069C>A GRCh37
NC_000001.9:g.5846656C>A NCBI36
NG_011724.2:g.133463G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4021G>T MANE Select ENSP00000367398.4:p.Gly1341Cys
ENST00000378156.8:c.4021G>T ENSP00000367398.4:p.Gly1341Cys
ENST00000378161.5:n.3172G>T
ENST00000378169.7:c.*2922G>T ENSP00000367411.3:n.*2922G>T
ENST00000460696.1:n.2769G>T
ENST00000478423.6:n.3753G>T
ENST00000489180.6:c.*1832G>T ENSP00000423747.1:n.*1832G>T
NM_001291593.1:c.2482G>T NP_001278522.1:p.Gly828Cys
NM_001291594.1:c.2485G>T NP_001278523.1:p.Gly829Cys
NM_015102.4:c.4021G>T NP_055917.1:p.Gly1341Cys
NR_111987.1:n.4836G>T
XM_006710563.2:c.4021G>T XP_006710626.1:p.Gly1341Cys
XM_006710565.2:c.4021G>T XP_006710628.1:p.Gly1341Cys
XM_011541213.1:c.4018G>T XP_011539515.1:p.Gly1340Cys
XM_011541214.1:c.3979G>T XP_011539516.1:p.Gly1327Cys
XM_011541215.1:c.3910G>T XP_011539517.1:p.Gly1304Cys
XM_011541216.1:c.4021G>T XP_011539518.1:p.Gly1341Cys
XM_011541217.1:c.4021G>T XP_011539519.1:p.Gly1341Cys
XM_011541218.1:c.4021G>T XP_011539520.1:p.Gly1341Cys
XM_011541219.1:c.3967G>T XP_011539521.1:p.Gly1323Cys
XM_006710563.3:c.4021G>T XP_006710626.1:p.Gly1341Cys
XM_011541216.2:c.4021G>T XP_011539518.1:p.Gly1341Cys
XM_011541217.2:c.4021G>T XP_011539519.1:p.Gly1341Cys
XM_011541218.2:c.4021G>T XP_011539520.1:p.Gly1341Cys
XM_017000996.1:c.3976G>T XP_016856485.1:p.Gly1326Cys
XM_017000997.1:c.4021G>T XP_016856486.1:p.Gly1341Cys
XM_017000999.1:c.3493G>T XP_016856488.1:p.Gly1165Cys
XM_017001000.2:c.3493G>T XP_016856489.1:p.Gly1165Cys
XM_017001001.1:c.3223G>T XP_016856490.1:p.Gly1075Cys
XM_017001003.1:c.2482G>T XP_016856492.1:p.Gly828Cys
XR_001737114.1:n.3887G>T
XR_001737115.1:n.3872G>T
NM_015102.5:c.4021G>T MANE Select NP_055917.1:p.Gly1341Cys
NM_001291593.2:c.2482G>T NP_001278522.1:p.Gly828Cys
NM_001291594.2:c.2485G>T NP_001278523.1:p.Gly829Cys
NR_111987.2:n.4788G>T