Canonical Allele Identifier: CA338049178
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864000T>C , CM000663.2:g.5864000T>C GRCh38
NC_000001.10:g.5924060T>C , CM000663.1:g.5924060T>C GRCh37
NC_000001.9:g.5846647T>C NCBI36
NG_011724.2:g.133472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4030A>G MANE Select ENSP00000367398.4:p.Lys1344Glu
ENST00000378156.8:c.4030A>G ENSP00000367398.4:p.Lys1344Glu
ENST00000378161.5:n.3181A>G
ENST00000378169.7:c.*2931A>G ENSP00000367411.3:n.*2931A>G
ENST00000460696.1:n.2778A>G
ENST00000478423.6:n.3762A>G
ENST00000489180.6:c.*1841A>G ENSP00000423747.1:n.*1841A>G
NM_001291593.1:c.2491A>G NP_001278522.1:p.Lys831Glu
NM_001291594.1:c.2494A>G NP_001278523.1:p.Lys832Glu
NM_015102.4:c.4030A>G NP_055917.1:p.Lys1344Glu
NR_111987.1:n.4845A>G
XM_006710563.2:c.4030A>G XP_006710626.1:p.Lys1344Glu
XM_006710565.2:c.4030A>G XP_006710628.1:p.Lys1344Glu
XM_011541213.1:c.4027A>G XP_011539515.1:p.Lys1343Glu
XM_011541214.1:c.3988A>G XP_011539516.1:p.Lys1330Glu
XM_011541215.1:c.3919A>G XP_011539517.1:p.Lys1307Glu
XM_011541216.1:c.4030A>G XP_011539518.1:p.Lys1344Glu
XM_011541217.1:c.4030A>G XP_011539519.1:p.Lys1344Glu
XM_011541218.1:c.4030A>G XP_011539520.1:p.Lys1344Glu
XM_011541219.1:c.3976A>G XP_011539521.1:p.Lys1326Glu
XM_006710563.3:c.4030A>G XP_006710626.1:p.Lys1344Glu
XM_011541216.2:c.4030A>G XP_011539518.1:p.Lys1344Glu
XM_011541217.2:c.4030A>G XP_011539519.1:p.Lys1344Glu
XM_011541218.2:c.4030A>G XP_011539520.1:p.Lys1344Glu
XM_017000996.1:c.3985A>G XP_016856485.1:p.Lys1329Glu
XM_017000997.1:c.4030A>G XP_016856486.1:p.Lys1344Glu
XM_017000999.1:c.3502A>G XP_016856488.1:p.Lys1168Glu
XM_017001000.2:c.3502A>G XP_016856489.1:p.Lys1168Glu
XM_017001001.1:c.3232A>G XP_016856490.1:p.Lys1078Glu
XM_017001003.1:c.2491A>G XP_016856492.1:p.Lys831Glu
XR_001737114.1:n.3896A>G
XR_001737115.1:n.3881A>G
NM_015102.5:c.4030A>G MANE Select NP_055917.1:p.Lys1344Glu
NM_001291593.2:c.2491A>G NP_001278522.1:p.Lys831Glu
NM_001291594.2:c.2494A>G NP_001278523.1:p.Lys832Glu
NR_111987.2:n.4797A>G