Canonical Allele Identifier: CA1149134201

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863998C= , CM000663.2:g.5863998C=	GRCh38
NC_000001.10:g.5924058C= , CM000663.1:g.5924058C=	GRCh37
NC_000001.9:g.5846645C=	NCBI36
NG_011724.2:g.133474G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4032G= MANE Select	ENSP00000367398.4:p.Lys1344=
ENST00000378156.8:c.4032G=	ENSP00000367398.4:p.Lys1344=
ENST00000378161.5:n.3183G=
ENST00000378169.7:c.*2933G=	ENSP00000367411.3:n.*2933G=
ENST00000460696.1:n.2780G=
ENST00000478423.6:n.3764G=
ENST00000489180.6:c.*1843G=	ENSP00000423747.1:n.*1843G=
NM_001291593.1:c.2493G=	NP_001278522.1:p.Lys831=
NM_001291594.1:c.2496G=	NP_001278523.1:p.Lys832=
NM_015102.4:c.4032G=	NP_055917.1:p.Lys1344=
NR_111987.1:n.4847G=
XM_006710563.2:c.4032G=	XP_006710626.1:p.Lys1344=
XM_006710565.2:c.4032G=	XP_006710628.1:p.Lys1344=
XM_011541213.1:c.4029G=	XP_011539515.1:p.Lys1343=
XM_011541214.1:c.3990G=	XP_011539516.1:p.Lys1330=
XM_011541215.1:c.3921G=	XP_011539517.1:p.Lys1307=
XM_011541216.1:c.4032G=	XP_011539518.1:p.Lys1344=
XM_011541217.1:c.4032G=	XP_011539519.1:p.Lys1344=
XM_011541218.1:c.4032G=	XP_011539520.1:p.Lys1344=
XM_011541219.1:c.3978G=	XP_011539521.1:p.Lys1326=
XM_006710563.3:c.4032G=	XP_006710626.1:p.Lys1344=
XM_011541216.2:c.4032G=	XP_011539518.1:p.Lys1344=
XM_011541217.2:c.4032G=	XP_011539519.1:p.Lys1344=
XM_011541218.2:c.4032G=	XP_011539520.1:p.Lys1344=
XM_017000996.1:c.3987G=	XP_016856485.1:p.Lys1329=
XM_017000997.1:c.4032G=	XP_016856486.1:p.Lys1344=
XM_017000999.1:c.3504G=	XP_016856488.1:p.Lys1168=
XM_017001000.2:c.3504G=	XP_016856489.1:p.Lys1168=
XM_017001001.1:c.3234G=	XP_016856490.1:p.Lys1078=
XM_017001003.1:c.2493G=	XP_016856492.1:p.Lys831=
XR_001737114.1:n.3898G=
XR_001737115.1:n.3883G=
NM_015102.5:c.4032G= MANE Select	NP_055917.1:p.Lys1344=
NM_001291593.2:c.2493G=	NP_001278522.1:p.Lys831=
NM_001291594.2:c.2496G=	NP_001278523.1:p.Lys832=
NR_111987.2:n.4799G=