Canonical Allele Identifier: CA338049021
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863962G>C , CM000663.2:g.5863962G>C GRCh38
NC_000001.10:g.5924022G>C , CM000663.1:g.5924022G>C GRCh37
NC_000001.9:g.5846609G>C NCBI36
NG_011724.2:g.133510C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4068C>G MANE Select ENSP00000367398.4:p.Tyr1356Ter
ENST00000378156.8:c.4068C>G ENSP00000367398.4:p.Tyr1356Ter
ENST00000378161.5:n.3219C>G
ENST00000378169.7:c.*2969C>G ENSP00000367411.3:n.*2969C>G
ENST00000460696.1:n.2816C>G
ENST00000478423.6:n.3800C>G
ENST00000489180.6:c.*1879C>G ENSP00000423747.1:n.*1879C>G
NM_001291593.1:c.2529C>G NP_001278522.1:p.Tyr843Ter
NM_001291594.1:c.2532C>G NP_001278523.1:p.Tyr844Ter
NM_015102.4:c.4068C>G NP_055917.1:p.Tyr1356Ter
NR_111987.1:n.4883C>G
XM_006710563.2:c.4068C>G XP_006710626.1:p.Tyr1356Ter
XM_006710565.2:c.4068C>G XP_006710628.1:p.Tyr1356Ter
XM_011541213.1:c.4065C>G XP_011539515.1:p.Tyr1355Ter
XM_011541214.1:c.4026C>G XP_011539516.1:p.Tyr1342Ter
XM_011541215.1:c.3957C>G XP_011539517.1:p.Tyr1319Ter
XM_011541216.1:c.4068C>G XP_011539518.1:p.Tyr1356Ter
XM_011541217.1:c.4068C>G XP_011539519.1:p.Tyr1356Ter
XM_011541218.1:c.4068C>G XP_011539520.1:p.Tyr1356Ter
XM_011541219.1:c.4014C>G XP_011539521.1:p.Tyr1338Ter
XM_006710563.3:c.4068C>G XP_006710626.1:p.Tyr1356Ter
XM_011541216.2:c.4068C>G XP_011539518.1:p.Tyr1356Ter
XM_011541217.2:c.4068C>G XP_011539519.1:p.Tyr1356Ter
XM_011541218.2:c.4068C>G XP_011539520.1:p.Tyr1356Ter
XM_017000996.1:c.4023C>G XP_016856485.1:p.Tyr1341Ter
XM_017000997.1:c.4068C>G XP_016856486.1:p.Tyr1356Ter
XM_017000999.1:c.3540C>G XP_016856488.1:p.Tyr1180Ter
XM_017001000.2:c.3540C>G XP_016856489.1:p.Tyr1180Ter
XM_017001001.1:c.3270C>G XP_016856490.1:p.Tyr1090Ter
XM_017001003.1:c.2529C>G XP_016856492.1:p.Tyr843Ter
XR_001737114.1:n.3934C>G
XR_001737115.1:n.3919C>G
NM_015102.5:c.4068C>G MANE Select NP_055917.1:p.Tyr1356Ter
NM_001291593.2:c.2529C>G NP_001278522.1:p.Tyr843Ter
NM_001291594.2:c.2532C>G NP_001278523.1:p.Tyr844Ter
NR_111987.2:n.4835C>G