Canonical Allele Identifier: CA1151209178

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863950C= , CM000663.2:g.5863950C=	GRCh38
NC_000001.10:g.5924010C= , CM000663.1:g.5924010C=	GRCh37
NC_000001.9:g.5846597C=	NCBI36
NG_011724.2:g.133522G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4080G= MANE Select	ENSP00000367398.4:p.Arg1360=
ENST00000378156.8:c.4080G=	ENSP00000367398.4:p.Arg1360=
ENST00000378161.5:n.3231G=
ENST00000378169.7:c.*2981G=	ENSP00000367411.3:n.*2981G=
ENST00000460696.1:n.2828G=
ENST00000478423.6:n.3812G=
ENST00000489180.6:c.*1891G=	ENSP00000423747.1:n.*1891G=
NM_001291593.1:c.2541G=	NP_001278522.1:p.Arg847=
NM_001291594.1:c.2544G=	NP_001278523.1:p.Arg848=
NM_015102.4:c.4080G=	NP_055917.1:p.Arg1360=
NR_111987.1:n.4895G=
XM_006710563.2:c.4080G=	XP_006710626.1:p.Arg1360=
XM_006710565.2:c.4080G=	XP_006710628.1:p.Arg1360=
XM_011541213.1:c.4077G=	XP_011539515.1:p.Arg1359=
XM_011541214.1:c.4038G=	XP_011539516.1:p.Arg1346=
XM_011541215.1:c.3969G=	XP_011539517.1:p.Arg1323=
XM_011541216.1:c.4080G=	XP_011539518.1:p.Arg1360=
XM_011541217.1:c.4080G=	XP_011539519.1:p.Arg1360=
XM_011541218.1:c.4080G=	XP_011539520.1:p.Arg1360=
XM_011541219.1:c.4026G=	XP_011539521.1:p.Arg1342=
XM_006710563.3:c.4080G=	XP_006710626.1:p.Arg1360=
XM_011541216.2:c.4080G=	XP_011539518.1:p.Arg1360=
XM_011541217.2:c.4080G=	XP_011539519.1:p.Arg1360=
XM_011541218.2:c.4080G=	XP_011539520.1:p.Arg1360=
XM_017000996.1:c.4035G=	XP_016856485.1:p.Arg1345=
XM_017000997.1:c.4080G=	XP_016856486.1:p.Arg1360=
XM_017000999.1:c.3552G=	XP_016856488.1:p.Arg1184=
XM_017001000.2:c.3552G=	XP_016856489.1:p.Arg1184=
XM_017001001.1:c.3282G=	XP_016856490.1:p.Arg1094=
XM_017001003.1:c.2541G=	XP_016856492.1:p.Arg847=
XR_001737114.1:n.3946G=
XR_001737115.1:n.3931G=
NM_015102.5:c.4080G= MANE Select	NP_055917.1:p.Arg1360=
NM_001291593.2:c.2541G=	NP_001278522.1:p.Arg847=
NM_001291594.2:c.2544G=	NP_001278523.1:p.Arg848=
NR_111987.2:n.4847G=