Canonical Allele Identifier: CA338049054
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863970T>C , CM000663.2:g.5863970T>C GRCh38
NC_000001.10:g.5924030T>C , CM000663.1:g.5924030T>C GRCh37
NC_000001.9:g.5846617T>C NCBI36
NG_011724.2:g.133502A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4060A>G MANE Select ENSP00000367398.4:p.Asn1354Asp
ENST00000378156.8:c.4060A>G ENSP00000367398.4:p.Asn1354Asp
ENST00000378161.5:n.3211A>G
ENST00000378169.7:c.*2961A>G ENSP00000367411.3:n.*2961A>G
ENST00000460696.1:n.2808A>G
ENST00000478423.6:n.3792A>G
ENST00000489180.6:c.*1871A>G ENSP00000423747.1:n.*1871A>G
NM_001291593.1:c.2521A>G NP_001278522.1:p.Asn841Asp
NM_001291594.1:c.2524A>G NP_001278523.1:p.Asn842Asp
NM_015102.4:c.4060A>G NP_055917.1:p.Asn1354Asp
NR_111987.1:n.4875A>G
XM_006710563.2:c.4060A>G XP_006710626.1:p.Asn1354Asp
XM_006710565.2:c.4060A>G XP_006710628.1:p.Asn1354Asp
XM_011541213.1:c.4057A>G XP_011539515.1:p.Asn1353Asp
XM_011541214.1:c.4018A>G XP_011539516.1:p.Asn1340Asp
XM_011541215.1:c.3949A>G XP_011539517.1:p.Asn1317Asp
XM_011541216.1:c.4060A>G XP_011539518.1:p.Asn1354Asp
XM_011541217.1:c.4060A>G XP_011539519.1:p.Asn1354Asp
XM_011541218.1:c.4060A>G XP_011539520.1:p.Asn1354Asp
XM_011541219.1:c.4006A>G XP_011539521.1:p.Asn1336Asp
XM_006710563.3:c.4060A>G XP_006710626.1:p.Asn1354Asp
XM_011541216.2:c.4060A>G XP_011539518.1:p.Asn1354Asp
XM_011541217.2:c.4060A>G XP_011539519.1:p.Asn1354Asp
XM_011541218.2:c.4060A>G XP_011539520.1:p.Asn1354Asp
XM_017000996.1:c.4015A>G XP_016856485.1:p.Asn1339Asp
XM_017000997.1:c.4060A>G XP_016856486.1:p.Asn1354Asp
XM_017000999.1:c.3532A>G XP_016856488.1:p.Asn1178Asp
XM_017001000.2:c.3532A>G XP_016856489.1:p.Asn1178Asp
XM_017001001.1:c.3262A>G XP_016856490.1:p.Asn1088Asp
XM_017001003.1:c.2521A>G XP_016856492.1:p.Asn841Asp
XR_001737114.1:n.3926A>G
XR_001737115.1:n.3911A>G
NM_015102.5:c.4060A>G MANE Select NP_055917.1:p.Asn1354Asp
NM_001291593.2:c.2521A>G NP_001278522.1:p.Asn841Asp
NM_001291594.2:c.2524A>G NP_001278523.1:p.Asn842Asp
NR_111987.2:n.4827A>G