Canonical Allele Identifier: CA554592

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5933211A>G , CM000663.2:g.5933211A>G	GRCh38
NC_000001.10:g.5993271A>G , CM000663.1:g.5993271A>G	GRCh37
NC_000001.9:g.5915858A>G	NCBI36
NG_011724.2:g.64261T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.1238T>C MANE Select	NP_055917.1:p.Ile413Thr
ENST00000378156.9:c.1238T>C MANE Select	ENSP00000367398.4:p.Ile413Thr
NM_001291593.1:c.-129T>C	NP_001278522.1:n.-129T>C
NM_001291593.2:c.-129T>C	NP_001278522.1:n.-129T>C
NM_001291594.1:c.-129T>C	NP_001278523.1:n.-129T>C
NM_001291594.2:c.-129T>C	NP_001278523.1:n.-129T>C
NM_015102.4:c.1238T>C	NP_055917.1:p.Ile413Thr
NR_111987.1:n.1506T>C
NR_111987.2:n.1458T>C
ENST00000378156.8:c.1238T>C	ENSP00000367398.4:p.Ile413Thr
ENST00000378169.7:c.*312T>C	ENSP00000367411.3:n.*312T>C
ENST00000478423.6:n.1140T>C
ENST00000489180.6:c.1238T>C	ENSP00000423747.1:p.Ile413Thr
ENST00000622020.4:c.1238T>C	ENSP00000481831.2:p.Ile413Thr
XM_006710563.2:c.1238T>C	XP_006710626.1:p.Ile413Thr
XM_006710563.3:c.1238T>C	XP_006710626.1:p.Ile413Thr
XM_006710565.2:c.1238T>C	XP_006710628.1:p.Ile413Thr
XM_011541213.1:c.1238T>C	XP_011539515.1:p.Ile413Thr
XM_011541214.1:c.1238T>C	XP_011539516.1:p.Ile413Thr
XM_011541215.1:c.1238T>C	XP_011539517.1:p.Ile413Thr
XM_011541216.1:c.1238T>C	XP_011539518.1:p.Ile413Thr
XM_011541216.2:c.1238T>C	XP_011539518.1:p.Ile413Thr
XM_011541217.1:c.1238T>C	XP_011539519.1:p.Ile413Thr
XM_011541217.2:c.1238T>C	XP_011539519.1:p.Ile413Thr
XM_011541218.1:c.1238T>C	XP_011539520.1:p.Ile413Thr
XM_011541218.2:c.1238T>C	XP_011539520.1:p.Ile413Thr
XM_011541219.1:c.1184T>C	XP_011539521.1:p.Ile395Thr
XM_011541220.1:c.1238T>C	XP_011539522.1:p.Ile413Thr
XM_017000996.1:c.1238T>C	XP_016856485.1:p.Ile413Thr
XM_017000997.1:c.1238T>C	XP_016856486.1:p.Ile413Thr
XM_017000998.1:c.1238T>C	XP_016856487.1:p.Ile413Thr
XM_017000999.1:c.710T>C	XP_016856488.1:p.Ile237Thr
XM_017001000.2:c.710T>C	XP_016856489.1:p.Ile237Thr
XM_017001001.1:c.440T>C	XP_016856490.1:p.Ile147Thr
XM_017001002.1:c.1238T>C	XP_016856491.1:p.Ile413Thr
XM_017001003.1:c.-129T>C	XP_016856492.1:n.-129T>C
XR_001737114.1:n.1276T>C
XR_001737115.1:n.1276T>C
XR_946604.1:n.1276T>C
XR_946605.1:n.1276T>C