Canonical Allele Identifier: CA1141580545

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887394G= , CM000663.2:g.5887394G=	GRCh38
NC_000001.10:g.5947454G= , CM000663.1:g.5947454G=	GRCh37
NC_000001.9:g.5870041G=	NCBI36
NG_011724.2:g.110078C=

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.2377C= MANE Select	NP_055917.1:p.Gln793=
ENST00000378156.9:c.2377C= MANE Select	ENSP00000367398.4:p.Gln793=
NM_001291593.1:c.838C=	NP_001278522.1:p.Gln280=
NM_001291593.2:c.838C=	NP_001278522.1:p.Gln280=
NM_001291594.1:c.841C=	NP_001278523.1:p.Gln281=
NM_001291594.2:c.841C=	NP_001278523.1:p.Gln281=
NM_015102.4:c.2377C=	NP_055917.1:p.Gln793=
NR_111987.1:n.2642C=
NR_111987.2:n.2594C=
ENST00000378156.8:c.2377C=	ENSP00000367398.4:p.Gln793=
ENST00000378169.7:c.*1278C=	ENSP00000367411.3:n.*1278C=
ENST00000466897.1:c.606C=
ENST00000478423.6:n.2109C=
ENST00000489180.6:c.2374C=	ENSP00000423747.1:p.Gln792=
ENST00000622020.4:c.2374C=	ENSP00000481831.2:p.Gln792=
XM_006710563.2:c.2377C=	XP_006710626.1:p.Gln793=
XM_006710563.3:c.2377C=	XP_006710626.1:p.Gln793=
XM_006710565.2:c.2377C=	XP_006710628.1:p.Gln793=
XM_011541213.1:c.2374C=	XP_011539515.1:p.Gln792=
XM_011541214.1:c.2377C=	XP_011539516.1:p.Gln793=
XM_011541215.1:c.2266C=	XP_011539517.1:p.Gln756=
XM_011541216.1:c.2377C=	XP_011539518.1:p.Gln793=
XM_011541216.2:c.2377C=	XP_011539518.1:p.Gln793=
XM_011541217.1:c.2377C=	XP_011539519.1:p.Gln793=
XM_011541217.2:c.2377C=	XP_011539519.1:p.Gln793=
XM_011541218.1:c.2377C=	XP_011539520.1:p.Gln793=
XM_011541218.2:c.2377C=	XP_011539520.1:p.Gln793=
XM_011541219.1:c.2323C=	XP_011539521.1:p.Gln775=
XM_011541220.1:c.2377C=	XP_011539522.1:p.Gln793=
XM_017000996.1:c.2374C=	XP_016856485.1:p.Gln792=
XM_017000997.1:c.2377C=	XP_016856486.1:p.Gln793=
XM_017000998.1:c.2377C=	XP_016856487.1:p.Gln793=
XM_017000999.1:c.1849C=	XP_016856488.1:p.Gln617=
XM_017001000.2:c.1849C=	XP_016856489.1:p.Gln617=
XM_017001001.1:c.1579C=	XP_016856490.1:p.Gln527=
XM_017001002.1:c.2377C=	XP_016856491.1:p.Gln793=
XM_017001003.1:c.838C=	XP_016856492.1:p.Gln280=
XR_001737114.1:n.2415C=
XR_001737115.1:n.2415C=
XR_946604.1:n.2415C=
XR_946605.1:n.2254C=