Canonical Allele Identifier: CA1148411862

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863297C= , CM000663.2:g.5863297C=	GRCh38
NC_000001.10:g.5923357C= , CM000663.1:g.5923357C=	GRCh37
NC_000001.9:g.5845944C=	NCBI36
NG_011724.2:g.134175G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4249G= MANE Select	ENSP00000367398.4:p.Glu1417=
ENST00000378156.8:c.4249G=	ENSP00000367398.4:p.Glu1417=
ENST00000378161.5:n.3884G=
ENST00000378169.7:c.*3150G=	ENSP00000367411.3:n.*3150G=
ENST00000460696.1:n.3481G=
ENST00000478423.6:n.3981G=
ENST00000489180.6:c.*2060G=	ENSP00000423747.1:n.*2060G=
NM_001291593.1:c.2710G=	NP_001278522.1:p.Glu904=
NM_001291594.1:c.2713G=	NP_001278523.1:p.Glu905=
NM_015102.4:c.4249G=	NP_055917.1:p.Glu1417=
NR_111987.1:n.5064G=
XM_006710563.2:c.4249G=	XP_006710626.1:p.Glu1417=
XM_006710565.2:c.4249G=	XP_006710628.1:p.Glu1417=
XM_011541213.1:c.4246G=	XP_011539515.1:p.Glu1416=
XM_011541214.1:c.4207G=	XP_011539516.1:p.Glu1403=
XM_011541215.1:c.4138G=	XP_011539517.1:p.Glu1380=
XM_011541216.1:c.4249G=	XP_011539518.1:p.Glu1417=
XM_011541217.1:c.4249G=	XP_011539519.1:p.Glu1417=
XM_011541218.1:c.4249G=	XP_011539520.1:p.Glu1417=
XM_011541219.1:c.4195G=	XP_011539521.1:p.Glu1399=
XM_006710563.3:c.4249G=	XP_006710626.1:p.Glu1417=
XM_011541216.2:c.4249G=	XP_011539518.1:p.Glu1417=
XM_011541217.2:c.4249G=	XP_011539519.1:p.Glu1417=
XM_011541218.2:c.4249G=	XP_011539520.1:p.Glu1417=
XM_017000996.1:c.4204G=	XP_016856485.1:p.Glu1402=
XM_017000997.1:c.4249G=	XP_016856486.1:p.Glu1417=
XM_017000999.1:c.3721G=	XP_016856488.1:p.Glu1241=
XM_017001000.2:c.3721G=	XP_016856489.1:p.Glu1241=
XM_017001001.1:c.3451G=	XP_016856490.1:p.Glu1151=
XM_017001003.1:c.2710G=	XP_016856492.1:p.Glu904=
XR_001737114.1:n.4115G=
XR_001737115.1:n.4100G=
NM_015102.5:c.4249G= MANE Select	NP_055917.1:p.Glu1417=
NM_001291593.2:c.2710G=	NP_001278522.1:p.Glu904=
NM_001291594.2:c.2713G=	NP_001278523.1:p.Glu905=
NR_111987.2:n.5016G=