Canonical Allele Identifier: CA338048895
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863929G>C , CM000663.2:g.5863929G>C GRCh38
NC_000001.10:g.5923989G>C , CM000663.1:g.5923989G>C GRCh37
NC_000001.9:g.5846576G>C NCBI36
NG_011724.2:g.133543C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4101C>G MANE Select ENSP00000367398.4:p.Asp1367Glu
ENST00000378156.8:c.4101C>G ENSP00000367398.4:p.Asp1367Glu
ENST00000378161.5:n.3252C>G
ENST00000378169.7:c.*3002C>G ENSP00000367411.3:n.*3002C>G
ENST00000460696.1:n.2849C>G
ENST00000478423.6:n.3833C>G
ENST00000489180.6:c.*1912C>G ENSP00000423747.1:n.*1912C>G
NM_001291593.1:c.2562C>G NP_001278522.1:p.Asp854Glu
NM_001291594.1:c.2565C>G NP_001278523.1:p.Asp855Glu
NM_015102.4:c.4101C>G NP_055917.1:p.Asp1367Glu
NR_111987.1:n.4916C>G
XM_006710563.2:c.4101C>G XP_006710626.1:p.Asp1367Glu
XM_006710565.2:c.4101C>G XP_006710628.1:p.Asp1367Glu
XM_011541213.1:c.4098C>G XP_011539515.1:p.Asp1366Glu
XM_011541214.1:c.4059C>G XP_011539516.1:p.Asp1353Glu
XM_011541215.1:c.3990C>G XP_011539517.1:p.Asp1330Glu
XM_011541216.1:c.4101C>G XP_011539518.1:p.Asp1367Glu
XM_011541217.1:c.4101C>G XP_011539519.1:p.Asp1367Glu
XM_011541218.1:c.4101C>G XP_011539520.1:p.Asp1367Glu
XM_011541219.1:c.4047C>G XP_011539521.1:p.Asp1349Glu
XM_006710563.3:c.4101C>G XP_006710626.1:p.Asp1367Glu
XM_011541216.2:c.4101C>G XP_011539518.1:p.Asp1367Glu
XM_011541217.2:c.4101C>G XP_011539519.1:p.Asp1367Glu
XM_011541218.2:c.4101C>G XP_011539520.1:p.Asp1367Glu
XM_017000996.1:c.4056C>G XP_016856485.1:p.Asp1352Glu
XM_017000997.1:c.4101C>G XP_016856486.1:p.Asp1367Glu
XM_017000999.1:c.3573C>G XP_016856488.1:p.Asp1191Glu
XM_017001000.2:c.3573C>G XP_016856489.1:p.Asp1191Glu
XM_017001001.1:c.3303C>G XP_016856490.1:p.Asp1101Glu
XM_017001003.1:c.2562C>G XP_016856492.1:p.Asp854Glu
XR_001737114.1:n.3967C>G
XR_001737115.1:n.3952C>G
NM_015102.5:c.4101C>G MANE Select NP_055917.1:p.Asp1367Glu
NM_001291593.2:c.2562C>G NP_001278522.1:p.Asp854Glu
NM_001291594.2:c.2565C>G NP_001278523.1:p.Asp855Glu
NR_111987.2:n.4868C>G