Canonical Allele Identifier: CA553871
Community Standard Title: NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5874988G>A , CM000663.2:g.5874988G>A GRCh38
NC_000001.10:g.5935048G>A , CM000663.1:g.5935048G>A GRCh37
NC_000001.9:g.5857635G>A NCBI36
NG_011724.2:g.122484C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.2930C>T MANE Select NP_055917.1:p.Thr977Met
ENST00000378156.9:c.2930C>T MANE Select ENSP00000367398.4:p.Thr977Met
NM_001291593.1:c.1391C>T NP_001278522.1:p.Thr464Met
NM_001291593.2:c.1391C>T NP_001278522.1:p.Thr464Met
NM_001291594.1:c.1394C>T NP_001278523.1:p.Thr465Met
NM_001291594.2:c.1394C>T NP_001278523.1:p.Thr465Met
NM_015102.4:c.2930C>T NP_055917.1:p.Thr977Met
NR_111987.1:n.3745C>T
NR_111987.2:n.3697C>T
ENST00000378156.8:c.2930C>T ENSP00000367398.4:p.Thr977Met
ENST00000378169.7:c.*1831C>T ENSP00000367411.3:n.*1831C>T
ENST00000478423.6:n.2662C>T
ENST00000489180.6:c.*741C>T ENSP00000423747.1:n.*741C>T
ENST00000506941.1:n.487C>T
XM_006710563.2:c.2930C>T XP_006710626.1:p.Thr977Met
XM_006710563.3:c.2930C>T XP_006710626.1:p.Thr977Met
XM_006710565.2:c.2930C>T XP_006710628.1:p.Thr977Met
XM_011541213.1:c.2927C>T XP_011539515.1:p.Thr976Met
XM_011541214.1:c.2888C>T XP_011539516.1:p.Thr963Met
XM_011541215.1:c.2819C>T XP_011539517.1:p.Thr940Met
XM_011541216.1:c.2930C>T XP_011539518.1:p.Thr977Met
XM_011541216.2:c.2930C>T XP_011539518.1:p.Thr977Met
XM_011541217.1:c.2930C>T XP_011539519.1:p.Thr977Met
XM_011541217.2:c.2930C>T XP_011539519.1:p.Thr977Met
XM_011541218.1:c.2930C>T XP_011539520.1:p.Thr977Met
XM_011541218.2:c.2930C>T XP_011539520.1:p.Thr977Met
XM_011541219.1:c.2876C>T XP_011539521.1:p.Thr959Met
XM_011541220.1:c.2930C>T XP_011539522.1:p.Thr977Met
XM_017000996.1:c.2885C>T XP_016856485.1:p.Thr962Met
XM_017000997.1:c.2930C>T XP_016856486.1:p.Thr977Met
XM_017000998.1:c.2930C>T XP_016856487.1:p.Thr977Met
XM_017000999.1:c.2402C>T XP_016856488.1:p.Thr801Met
XM_017001000.2:c.2402C>T XP_016856489.1:p.Thr801Met
XM_017001001.1:c.2132C>T XP_016856490.1:p.Thr711Met
XM_017001003.1:c.1391C>T XP_016856492.1:p.Thr464Met
XR_001737114.1:n.2968C>T
XR_001737115.1:n.2968C>T
XR_946604.1:n.2968C>T