Canonical Allele Identifier: CA553870
Community Standard Title: NM_015102.5(NPHP4):c.2931G>A (p.Thr977=)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5874987C>T , CM000663.2:g.5874987C>T GRCh38
NC_000001.10:g.5935047C>T , CM000663.1:g.5935047C>T GRCh37
NC_000001.9:g.5857634C>T NCBI36
NG_011724.2:g.122485G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.2931G>A MANE Select NP_055917.1:p.Thr977=
ENST00000378156.9:c.2931G>A MANE Select ENSP00000367398.4:p.Thr977=
NM_001291593.1:c.1392G>A NP_001278522.1:p.Thr464=
NM_001291593.2:c.1392G>A NP_001278522.1:p.Thr464=
NM_001291594.1:c.1395G>A NP_001278523.1:p.Thr465=
NM_001291594.2:c.1395G>A NP_001278523.1:p.Thr465=
NM_015102.4:c.2931G>A NP_055917.1:p.Thr977=
NR_111987.1:n.3746G>A
NR_111987.2:n.3698G>A
ENST00000378156.8:c.2931G>A ENSP00000367398.4:p.Thr977=
ENST00000378169.7:c.*1832G>A ENSP00000367411.3:n.*1832G>A
ENST00000478423.6:n.2663G>A
ENST00000489180.6:c.*742G>A ENSP00000423747.1:n.*742G>A
ENST00000506941.1:n.488G>A
XM_006710563.2:c.2931G>A XP_006710626.1:p.Thr977=
XM_006710563.3:c.2931G>A XP_006710626.1:p.Thr977=
XM_006710565.2:c.2931G>A XP_006710628.1:p.Thr977=
XM_011541213.1:c.2928G>A XP_011539515.1:p.Thr976=
XM_011541214.1:c.2889G>A XP_011539516.1:p.Thr963=
XM_011541215.1:c.2820G>A XP_011539517.1:p.Thr940=
XM_011541216.1:c.2931G>A XP_011539518.1:p.Thr977=
XM_011541216.2:c.2931G>A XP_011539518.1:p.Thr977=
XM_011541217.1:c.2931G>A XP_011539519.1:p.Thr977=
XM_011541217.2:c.2931G>A XP_011539519.1:p.Thr977=
XM_011541218.1:c.2931G>A XP_011539520.1:p.Thr977=
XM_011541218.2:c.2931G>A XP_011539520.1:p.Thr977=
XM_011541219.1:c.2877G>A XP_011539521.1:p.Thr959=
XM_011541220.1:c.2931G>A XP_011539522.1:p.Thr977=
XM_017000996.1:c.2886G>A XP_016856485.1:p.Thr962=
XM_017000997.1:c.2931G>A XP_016856486.1:p.Thr977=
XM_017000998.1:c.2931G>A XP_016856487.1:p.Thr977=
XM_017000999.1:c.2403G>A XP_016856488.1:p.Thr801=
XM_017001000.2:c.2403G>A XP_016856489.1:p.Thr801=
XM_017001001.1:c.2133G>A XP_016856490.1:p.Thr711=
XM_017001003.1:c.1392G>A XP_016856492.1:p.Thr464=
XR_001737114.1:n.2969G>A
XR_001737115.1:n.2969G>A
XR_946604.1:n.2969G>A