Canonical Allele Identifier: CA553723
Community Standard Title: NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5873300G>A , CM000663.2:g.5873300G>A GRCh38
NC_000001.10:g.5933360G>A , CM000663.1:g.5933360G>A GRCh37
NC_000001.9:g.5855947G>A NCBI36
NG_011724.2:g.124172C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.3267C>T MANE Select NP_055917.1:p.Asp1089=
ENST00000378156.9:c.3267C>T MANE Select ENSP00000367398.4:p.Asp1089=
NM_001291593.1:c.1728C>T NP_001278522.1:p.Asp576=
NM_001291593.2:c.1728C>T NP_001278522.1:p.Asp576=
NM_001291594.1:c.1731C>T NP_001278523.1:p.Asp577=
NM_001291594.2:c.1731C>T NP_001278523.1:p.Asp577=
NM_015102.4:c.3267C>T NP_055917.1:p.Asp1089=
NR_111987.1:n.4082C>T
NR_111987.2:n.4034C>T
ENST00000378156.8:c.3267C>T ENSP00000367398.4:p.Asp1089=
ENST00000378169.7:c.*2168C>T ENSP00000367411.3:n.*2168C>T
ENST00000468253.1:n.542C>T
ENST00000478423.6:n.2999C>T
ENST00000489180.6:c.*1078C>T ENSP00000423747.1:n.*1078C>T
XM_006710563.2:c.3267C>T XP_006710626.1:p.Asp1089=
XM_006710563.3:c.3267C>T XP_006710626.1:p.Asp1089=
XM_006710565.2:c.3267C>T XP_006710628.1:p.Asp1089=
XM_011541213.1:c.3264C>T XP_011539515.1:p.Asp1088=
XM_011541214.1:c.3225C>T XP_011539516.1:p.Asp1075=
XM_011541215.1:c.3156C>T XP_011539517.1:p.Asp1052=
XM_011541216.1:c.3267C>T XP_011539518.1:p.Asp1089=
XM_011541216.2:c.3267C>T XP_011539518.1:p.Asp1089=
XM_011541217.1:c.3267C>T XP_011539519.1:p.Asp1089=
XM_011541217.2:c.3267C>T XP_011539519.1:p.Asp1089=
XM_011541218.1:c.3267C>T XP_011539520.1:p.Asp1089=
XM_011541218.2:c.3267C>T XP_011539520.1:p.Asp1089=
XM_011541219.1:c.3213C>T XP_011539521.1:p.Asp1071=
XM_011541220.1:c.3267C>T XP_011539522.1:p.Asp1089=
XM_017000996.1:c.3222C>T XP_016856485.1:p.Asp1074=
XM_017000997.1:c.3267C>T XP_016856486.1:p.Asp1089=
XM_017000998.1:c.3267C>T XP_016856487.1:p.Asp1089=
XM_017000999.1:c.2739C>T XP_016856488.1:p.Asp913=
XM_017001000.2:c.2739C>T XP_016856489.1:p.Asp913=
XM_017001001.1:c.2469C>T XP_016856490.1:p.Asp823=
XM_017001003.1:c.1728C>T XP_016856492.1:p.Asp576=
XR_001737114.1:n.3305C>T
XR_001737115.1:n.3118C>T
XR_946604.1:n.3118C>T