Canonical Allele Identifier: CA554942
Community Standard Title: NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5986157G>A , CM000663.2:g.5986157G>A GRCh38
NC_000001.10:g.6046217G>A , CM000663.1:g.6046217G>A GRCh37
NC_000001.9:g.5968804G>A NCBI36
NG_011724.2:g.11315C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.133C>T MANE Select NP_055917.1:p.Gln45Ter
ENST00000378156.9:c.133C>T MANE Select ENSP00000367398.4:p.Gln45Ter
NM_001291593.1:c.-1097C>T NP_001278522.1:n.-1097C>T
NM_001291593.2:c.-1097C>T NP_001278522.1:n.-1097C>T
NM_001291594.1:c.-1088+6087C>T NP_001278523.1:n.-1088+6087C>T
NM_001291594.2:c.-1088+6087C>T NP_001278523.1:n.-1088+6087C>T
NM_015102.4:c.133C>T NP_055917.1:p.Gln45Ter
NR_111987.1:n.401C>T
NR_111987.2:n.353C>T
ENST00000378156.8:c.133C>T ENSP00000367398.4:p.Gln45Ter
ENST00000378169.7:c.133C>T ENSP00000367411.3:p.Gln45Ter
ENST00000478423.6:n.181+6087C>T
ENST00000489180.6:c.133C>T ENSP00000423747.1:p.Gln45Ter
ENST00000622020.4:c.133C>T ENSP00000481831.2:p.Gln45Ter
XM_006710563.2:c.133C>T XP_006710626.1:p.Gln45Ter
XM_006710563.3:c.133C>T XP_006710626.1:p.Gln45Ter
XM_006710565.2:c.133C>T XP_006710628.1:p.Gln45Ter
XM_011541213.1:c.133C>T XP_011539515.1:p.Gln45Ter
XM_011541214.1:c.133C>T XP_011539516.1:p.Gln45Ter
XM_011541215.1:c.133C>T XP_011539517.1:p.Gln45Ter
XM_011541216.1:c.133C>T XP_011539518.1:p.Gln45Ter
XM_011541216.2:c.133C>T XP_011539518.1:p.Gln45Ter
XM_011541217.1:c.133C>T XP_011539519.1:p.Gln45Ter
XM_011541217.2:c.133C>T XP_011539519.1:p.Gln45Ter
XM_011541218.1:c.133C>T XP_011539520.1:p.Gln45Ter
XM_011541218.2:c.133C>T XP_011539520.1:p.Gln45Ter
XM_011541219.1:c.79C>T XP_011539521.1:p.Gln27Ter
XM_011541220.1:c.133C>T XP_011539522.1:p.Gln45Ter
XM_017000996.1:c.133C>T XP_016856485.1:p.Gln45Ter
XM_017000997.1:c.133C>T XP_016856486.1:p.Gln45Ter
XM_017000998.1:c.133C>T XP_016856487.1:p.Gln45Ter
XM_017000999.1:c.-396C>T XP_016856488.1:n.-396C>T
XM_017001002.1:c.133C>T XP_016856491.1:p.Gln45Ter
XR_001737114.1:n.171C>T
XR_001737115.1:n.171C>T
XR_946604.1:n.171C>T
XR_946605.1:n.171C>T