Canonical Allele Identifier: CA338049139
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863990T>C , CM000663.2:g.5863990T>C GRCh38
NC_000001.10:g.5924050T>C , CM000663.1:g.5924050T>C GRCh37
NC_000001.9:g.5846637T>C NCBI36
NG_011724.2:g.133482A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4040A>G MANE Select ENSP00000367398.4:p.Asn1347Ser
ENST00000378156.8:c.4040A>G ENSP00000367398.4:p.Asn1347Ser
ENST00000378161.5:n.3191A>G
ENST00000378169.7:c.*2941A>G ENSP00000367411.3:n.*2941A>G
ENST00000460696.1:n.2788A>G
ENST00000478423.6:n.3772A>G
ENST00000489180.6:c.*1851A>G ENSP00000423747.1:n.*1851A>G
NM_001291593.1:c.2501A>G NP_001278522.1:p.Asn834Ser
NM_001291594.1:c.2504A>G NP_001278523.1:p.Asn835Ser
NM_015102.4:c.4040A>G NP_055917.1:p.Asn1347Ser
NR_111987.1:n.4855A>G
XM_006710563.2:c.4040A>G XP_006710626.1:p.Asn1347Ser
XM_006710565.2:c.4040A>G XP_006710628.1:p.Asn1347Ser
XM_011541213.1:c.4037A>G XP_011539515.1:p.Asn1346Ser
XM_011541214.1:c.3998A>G XP_011539516.1:p.Asn1333Ser
XM_011541215.1:c.3929A>G XP_011539517.1:p.Asn1310Ser
XM_011541216.1:c.4040A>G XP_011539518.1:p.Asn1347Ser
XM_011541217.1:c.4040A>G XP_011539519.1:p.Asn1347Ser
XM_011541218.1:c.4040A>G XP_011539520.1:p.Asn1347Ser
XM_011541219.1:c.3986A>G XP_011539521.1:p.Asn1329Ser
XM_006710563.3:c.4040A>G XP_006710626.1:p.Asn1347Ser
XM_011541216.2:c.4040A>G XP_011539518.1:p.Asn1347Ser
XM_011541217.2:c.4040A>G XP_011539519.1:p.Asn1347Ser
XM_011541218.2:c.4040A>G XP_011539520.1:p.Asn1347Ser
XM_017000996.1:c.3995A>G XP_016856485.1:p.Asn1332Ser
XM_017000997.1:c.4040A>G XP_016856486.1:p.Asn1347Ser
XM_017000999.1:c.3512A>G XP_016856488.1:p.Asn1171Ser
XM_017001000.2:c.3512A>G XP_016856489.1:p.Asn1171Ser
XM_017001001.1:c.3242A>G XP_016856490.1:p.Asn1081Ser
XM_017001003.1:c.2501A>G XP_016856492.1:p.Asn834Ser
XR_001737114.1:n.3906A>G
XR_001737115.1:n.3891A>G
NM_015102.5:c.4040A>G MANE Select NP_055917.1:p.Asn1347Ser
NM_001291593.2:c.2501A>G NP_001278522.1:p.Asn834Ser
NM_001291594.2:c.2504A>G NP_001278523.1:p.Asn835Ser
NR_111987.2:n.4807A>G