Canonical Allele Identifier: CA338049240
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864016C>A , CM000663.2:g.5864016C>A GRCh38
NC_000001.10:g.5924076C>A , CM000663.1:g.5924076C>A GRCh37
NC_000001.9:g.5846663C>A NCBI36
NG_011724.2:g.133456G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4014G>T MANE Select ENSP00000367398.4:p.Leu1338Phe
ENST00000378156.8:c.4014G>T ENSP00000367398.4:p.Leu1338Phe
ENST00000378161.5:n.3165G>T
ENST00000378169.7:c.*2915G>T ENSP00000367411.3:n.*2915G>T
ENST00000460696.1:n.2762G>T
ENST00000478423.6:n.3746G>T
ENST00000489180.6:c.*1825G>T ENSP00000423747.1:n.*1825G>T
NM_001291593.1:c.2475G>T NP_001278522.1:p.Leu825Phe
NM_001291594.1:c.2478G>T NP_001278523.1:p.Leu826Phe
NM_015102.4:c.4014G>T NP_055917.1:p.Leu1338Phe
NR_111987.1:n.4829G>T
XM_006710563.2:c.4014G>T XP_006710626.1:p.Leu1338Phe
XM_006710565.2:c.4014G>T XP_006710628.1:p.Leu1338Phe
XM_011541213.1:c.4011G>T XP_011539515.1:p.Leu1337Phe
XM_011541214.1:c.3972G>T XP_011539516.1:p.Leu1324Phe
XM_011541215.1:c.3903G>T XP_011539517.1:p.Leu1301Phe
XM_011541216.1:c.4014G>T XP_011539518.1:p.Leu1338Phe
XM_011541217.1:c.4014G>T XP_011539519.1:p.Leu1338Phe
XM_011541218.1:c.4014G>T XP_011539520.1:p.Leu1338Phe
XM_011541219.1:c.3960G>T XP_011539521.1:p.Leu1320Phe
XM_006710563.3:c.4014G>T XP_006710626.1:p.Leu1338Phe
XM_011541216.2:c.4014G>T XP_011539518.1:p.Leu1338Phe
XM_011541217.2:c.4014G>T XP_011539519.1:p.Leu1338Phe
XM_011541218.2:c.4014G>T XP_011539520.1:p.Leu1338Phe
XM_017000996.1:c.3969G>T XP_016856485.1:p.Leu1323Phe
XM_017000997.1:c.4014G>T XP_016856486.1:p.Leu1338Phe
XM_017000999.1:c.3486G>T XP_016856488.1:p.Leu1162Phe
XM_017001000.2:c.3486G>T XP_016856489.1:p.Leu1162Phe
XM_017001001.1:c.3216G>T XP_016856490.1:p.Leu1072Phe
XM_017001003.1:c.2475G>T XP_016856492.1:p.Leu825Phe
XR_001737114.1:n.3880G>T
XR_001737115.1:n.3865G>T
NM_015102.5:c.4014G>T MANE Select NP_055917.1:p.Leu1338Phe
NM_001291593.2:c.2475G>T NP_001278522.1:p.Leu825Phe
NM_001291594.2:c.2478G>T NP_001278523.1:p.Leu826Phe
NR_111987.2:n.4781G>T