Canonical Allele Identifier: CA554714

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5948192G>A , CM000663.2:g.5948192G>A	GRCh38
NC_000001.10:g.6008252G>A , CM000663.1:g.6008252G>A	GRCh37
NC_000001.9:g.5930839G>A	NCBI36
NG_011724.2:g.49280C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.870C>T MANE Select	NP_055917.1:p.Gly290=
ENST00000378156.9:c.870C>T MANE Select	ENSP00000367398.4:p.Gly290=
NM_001291593.1:c.-497C>T	NP_001278522.1:n.-497C>T
NM_001291593.2:c.-497C>T	NP_001278522.1:n.-497C>T
NM_001291594.1:c.-497C>T	NP_001278523.1:n.-497C>T
NM_001291594.2:c.-497C>T	NP_001278523.1:n.-497C>T
NM_015102.4:c.870C>T	NP_055917.1:p.Gly290=
NR_111987.1:n.1138C>T
NR_111987.2:n.1090C>T
ENST00000378156.8:c.870C>T	ENSP00000367398.4:p.Gly290=
ENST00000378169.7:c.733C>T	ENSP00000367411.3:p.Arg245Cys
ENST00000478423.6:n.772C>T
ENST00000489180.6:c.870C>T	ENSP00000423747.1:p.Gly290=
ENST00000622020.4:c.870C>T	ENSP00000481831.2:p.Gly290=
XM_006710563.2:c.870C>T	XP_006710626.1:p.Gly290=
XM_006710563.3:c.870C>T	XP_006710626.1:p.Gly290=
XM_006710565.2:c.870C>T	XP_006710628.1:p.Gly290=
XM_011541213.1:c.870C>T	XP_011539515.1:p.Gly290=
XM_011541214.1:c.870C>T	XP_011539516.1:p.Gly290=
XM_011541215.1:c.870C>T	XP_011539517.1:p.Gly290=
XM_011541216.1:c.870C>T	XP_011539518.1:p.Gly290=
XM_011541216.2:c.870C>T	XP_011539518.1:p.Gly290=
XM_011541217.1:c.870C>T	XP_011539519.1:p.Gly290=
XM_011541217.2:c.870C>T	XP_011539519.1:p.Gly290=
XM_011541218.1:c.870C>T	XP_011539520.1:p.Gly290=
XM_011541218.2:c.870C>T	XP_011539520.1:p.Gly290=
XM_011541219.1:c.816C>T	XP_011539521.1:p.Gly272=
XM_011541220.1:c.870C>T	XP_011539522.1:p.Gly290=
XM_017000996.1:c.870C>T	XP_016856485.1:p.Gly290=
XM_017000997.1:c.870C>T	XP_016856486.1:p.Gly290=
XM_017000998.1:c.870C>T	XP_016856487.1:p.Gly290=
XM_017000999.1:c.342C>T	XP_016856488.1:p.Gly114=
XM_017001000.2:c.342C>T	XP_016856489.1:p.Gly114=
XM_017001001.1:c.72C>T	XP_016856490.1:p.Gly24=
XM_017001002.1:c.870C>T	XP_016856491.1:p.Gly290=
XM_017001003.1:c.-497C>T	XP_016856492.1:n.-497C>T
XR_001737114.1:n.908C>T
XR_001737115.1:n.908C>T
XR_946604.1:n.908C>T
XR_946605.1:n.908C>T