Canonical Allele Identifier: CA338049102
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863982T>A , CM000663.2:g.5863982T>A GRCh38
NC_000001.10:g.5924042T>A , CM000663.1:g.5924042T>A GRCh37
NC_000001.9:g.5846629T>A NCBI36
NG_011724.2:g.133490A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4048A>T MANE Select ENSP00000367398.4:p.Ile1350Phe
ENST00000378156.8:c.4048A>T ENSP00000367398.4:p.Ile1350Phe
ENST00000378161.5:n.3199A>T
ENST00000378169.7:c.*2949A>T ENSP00000367411.3:n.*2949A>T
ENST00000460696.1:n.2796A>T
ENST00000478423.6:n.3780A>T
ENST00000489180.6:c.*1859A>T ENSP00000423747.1:n.*1859A>T
NM_001291593.1:c.2509A>T NP_001278522.1:p.Ile837Phe
NM_001291594.1:c.2512A>T NP_001278523.1:p.Ile838Phe
NM_015102.4:c.4048A>T NP_055917.1:p.Ile1350Phe
NR_111987.1:n.4863A>T
XM_006710563.2:c.4048A>T XP_006710626.1:p.Ile1350Phe
XM_006710565.2:c.4048A>T XP_006710628.1:p.Ile1350Phe
XM_011541213.1:c.4045A>T XP_011539515.1:p.Ile1349Phe
XM_011541214.1:c.4006A>T XP_011539516.1:p.Ile1336Phe
XM_011541215.1:c.3937A>T XP_011539517.1:p.Ile1313Phe
XM_011541216.1:c.4048A>T XP_011539518.1:p.Ile1350Phe
XM_011541217.1:c.4048A>T XP_011539519.1:p.Ile1350Phe
XM_011541218.1:c.4048A>T XP_011539520.1:p.Ile1350Phe
XM_011541219.1:c.3994A>T XP_011539521.1:p.Ile1332Phe
XM_006710563.3:c.4048A>T XP_006710626.1:p.Ile1350Phe
XM_011541216.2:c.4048A>T XP_011539518.1:p.Ile1350Phe
XM_011541217.2:c.4048A>T XP_011539519.1:p.Ile1350Phe
XM_011541218.2:c.4048A>T XP_011539520.1:p.Ile1350Phe
XM_017000996.1:c.4003A>T XP_016856485.1:p.Ile1335Phe
XM_017000997.1:c.4048A>T XP_016856486.1:p.Ile1350Phe
XM_017000999.1:c.3520A>T XP_016856488.1:p.Ile1174Phe
XM_017001000.2:c.3520A>T XP_016856489.1:p.Ile1174Phe
XM_017001001.1:c.3250A>T XP_016856490.1:p.Ile1084Phe
XM_017001003.1:c.2509A>T XP_016856492.1:p.Ile837Phe
XR_001737114.1:n.3914A>T
XR_001737115.1:n.3899A>T
NM_015102.5:c.4048A>T MANE Select NP_055917.1:p.Ile1350Phe
NM_001291593.2:c.2509A>T NP_001278522.1:p.Ile837Phe
NM_001291594.2:c.2512A>T NP_001278523.1:p.Ile838Phe
NR_111987.2:n.4815A>T