Canonical Allele Identifier: CA1143645390

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863955G= , CM000663.2:g.5863955G=	GRCh38
NC_000001.10:g.5924015G= , CM000663.1:g.5924015G=	GRCh37
NC_000001.9:g.5846602G=	NCBI36
NG_011724.2:g.133517C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4075C= MANE Select	ENSP00000367398.4:p.Arg1359=
ENST00000378156.8:c.4075C=	ENSP00000367398.4:p.Arg1359=
ENST00000378161.5:n.3226C=
ENST00000378169.7:c.*2976C=	ENSP00000367411.3:n.*2976C=
ENST00000460696.1:n.2823C=
ENST00000478423.6:n.3807C=
ENST00000489180.6:c.*1886C=	ENSP00000423747.1:n.*1886C=
NM_001291593.1:c.2536C=	NP_001278522.1:p.Arg846=
NM_001291594.1:c.2539C=	NP_001278523.1:p.Arg847=
NM_015102.4:c.4075C=	NP_055917.1:p.Arg1359=
NR_111987.1:n.4890C=
XM_006710563.2:c.4075C=	XP_006710626.1:p.Arg1359=
XM_006710565.2:c.4075C=	XP_006710628.1:p.Arg1359=
XM_011541213.1:c.4072C=	XP_011539515.1:p.Arg1358=
XM_011541214.1:c.4033C=	XP_011539516.1:p.Arg1345=
XM_011541215.1:c.3964C=	XP_011539517.1:p.Arg1322=
XM_011541216.1:c.4075C=	XP_011539518.1:p.Arg1359=
XM_011541217.1:c.4075C=	XP_011539519.1:p.Arg1359=
XM_011541218.1:c.4075C=	XP_011539520.1:p.Arg1359=
XM_011541219.1:c.4021C=	XP_011539521.1:p.Arg1341=
XM_006710563.3:c.4075C=	XP_006710626.1:p.Arg1359=
XM_011541216.2:c.4075C=	XP_011539518.1:p.Arg1359=
XM_011541217.2:c.4075C=	XP_011539519.1:p.Arg1359=
XM_011541218.2:c.4075C=	XP_011539520.1:p.Arg1359=
XM_017000996.1:c.4030C=	XP_016856485.1:p.Arg1344=
XM_017000997.1:c.4075C=	XP_016856486.1:p.Arg1359=
XM_017000999.1:c.3547C=	XP_016856488.1:p.Arg1183=
XM_017001000.2:c.3547C=	XP_016856489.1:p.Arg1183=
XM_017001001.1:c.3277C=	XP_016856490.1:p.Arg1093=
XM_017001003.1:c.2536C=	XP_016856492.1:p.Arg846=
XR_001737114.1:n.3941C=
XR_001737115.1:n.3926C=
NM_015102.5:c.4075C= MANE Select	NP_055917.1:p.Arg1359=
NM_001291593.2:c.2536C=	NP_001278522.1:p.Arg846=
NM_001291594.2:c.2539C=	NP_001278523.1:p.Arg847=
NR_111987.2:n.4842C=