Canonical Allele Identifier: CA553960

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5877194G>A , CM000663.2:g.5877194G>A	GRCh38
NC_000001.10:g.5937254G>A , CM000663.1:g.5937254G>A	GRCh37
NC_000001.9:g.5859841G>A	NCBI36
NG_011724.2:g.120278C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.2716C>T MANE Select	NP_055917.1:p.Arg906Cys
ENST00000378156.9:c.2716C>T MANE Select	ENSP00000367398.4:p.Arg906Cys
NM_001291593.1:c.1177C>T	NP_001278522.1:p.Arg393Cys
NM_001291593.2:c.1177C>T	NP_001278522.1:p.Arg393Cys
NM_001291594.1:c.1180C>T	NP_001278523.1:p.Arg394Cys
NM_001291594.2:c.1180C>T	NP_001278523.1:p.Arg394Cys
NM_015102.4:c.2716C>T	NP_055917.1:p.Arg906Cys
NR_111987.1:n.3268C>T
NR_111987.2:n.3220C>T
ENST00000378156.8:c.2716C>T	ENSP00000367398.4:p.Arg906Cys
ENST00000378169.7:c.*1617C>T	ENSP00000367411.3:n.*1617C>T
ENST00000470763.1:n.2841C>T
ENST00000478423.6:n.2448C>T
ENST00000489180.6:c.*264C>T	ENSP00000423747.1:n.*264C>T
ENST00000506941.1:n.273C>T
XM_006710563.2:c.2716C>T	XP_006710626.1:p.Arg906Cys
XM_006710563.3:c.2716C>T	XP_006710626.1:p.Arg906Cys
XM_006710565.2:c.2716C>T	XP_006710628.1:p.Arg906Cys
XM_011541213.1:c.2713C>T	XP_011539515.1:p.Arg905Cys
XM_011541214.1:c.2716C>T	XP_011539516.1:p.Arg906Cys
XM_011541215.1:c.2605C>T	XP_011539517.1:p.Arg869Cys
XM_011541216.1:c.2716C>T	XP_011539518.1:p.Arg906Cys
XM_011541216.2:c.2716C>T	XP_011539518.1:p.Arg906Cys
XM_011541217.1:c.2716C>T	XP_011539519.1:p.Arg906Cys
XM_011541217.2:c.2716C>T	XP_011539519.1:p.Arg906Cys
XM_011541218.1:c.2716C>T	XP_011539520.1:p.Arg906Cys
XM_011541218.2:c.2716C>T	XP_011539520.1:p.Arg906Cys
XM_011541219.1:c.2662C>T	XP_011539521.1:p.Arg888Cys
XM_011541220.1:c.2716C>T	XP_011539522.1:p.Arg906Cys
XM_017000996.1:c.2713C>T	XP_016856485.1:p.Arg905Cys
XM_017000997.1:c.2716C>T	XP_016856486.1:p.Arg906Cys
XM_017000998.1:c.2716C>T	XP_016856487.1:p.Arg906Cys
XM_017000999.1:c.2188C>T	XP_016856488.1:p.Arg730Cys
XM_017001000.2:c.2188C>T	XP_016856489.1:p.Arg730Cys
XM_017001001.1:c.1918C>T	XP_016856490.1:p.Arg640Cys
XM_017001002.1:c.2716C>T	XP_016856491.1:p.Arg906Cys
XM_017001003.1:c.1177C>T	XP_016856492.1:p.Arg393Cys
XR_001737114.1:n.2754C>T
XR_001737115.1:n.2754C>T
XR_946604.1:n.2754C>T
XR_946605.1:n.2593C>T