Canonical Allele Identifier: CA1143490297

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864011G= , CM000663.2:g.5864011G=	GRCh38
NC_000001.10:g.5924071G= , CM000663.1:g.5924071G=	GRCh37
NC_000001.9:g.5846658G=	NCBI36
NG_011724.2:g.133461C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4019C= MANE Select	ENSP00000367398.4:p.Ala1340=
ENST00000378156.8:c.4019C=	ENSP00000367398.4:p.Ala1340=
ENST00000378161.5:n.3170C=
ENST00000378169.7:c.*2920C=	ENSP00000367411.3:n.*2920C=
ENST00000460696.1:n.2767C=
ENST00000478423.6:n.3751C=
ENST00000489180.6:c.*1830C=	ENSP00000423747.1:n.*1830C=
NM_001291593.1:c.2480C=	NP_001278522.1:p.Ala827=
NM_001291594.1:c.2483C=	NP_001278523.1:p.Ala828=
NM_015102.4:c.4019C=	NP_055917.1:p.Ala1340=
NR_111987.1:n.4834C=
XM_006710563.2:c.4019C=	XP_006710626.1:p.Ala1340=
XM_006710565.2:c.4019C=	XP_006710628.1:p.Ala1340=
XM_011541213.1:c.4016C=	XP_011539515.1:p.Ala1339=
XM_011541214.1:c.3977C=	XP_011539516.1:p.Ala1326=
XM_011541215.1:c.3908C=	XP_011539517.1:p.Ala1303=
XM_011541216.1:c.4019C=	XP_011539518.1:p.Ala1340=
XM_011541217.1:c.4019C=	XP_011539519.1:p.Ala1340=
XM_011541218.1:c.4019C=	XP_011539520.1:p.Ala1340=
XM_011541219.1:c.3965C=	XP_011539521.1:p.Ala1322=
XM_006710563.3:c.4019C=	XP_006710626.1:p.Ala1340=
XM_011541216.2:c.4019C=	XP_011539518.1:p.Ala1340=
XM_011541217.2:c.4019C=	XP_011539519.1:p.Ala1340=
XM_011541218.2:c.4019C=	XP_011539520.1:p.Ala1340=
XM_017000996.1:c.3974C=	XP_016856485.1:p.Ala1325=
XM_017000997.1:c.4019C=	XP_016856486.1:p.Ala1340=
XM_017000999.1:c.3491C=	XP_016856488.1:p.Ala1164=
XM_017001000.2:c.3491C=	XP_016856489.1:p.Ala1164=
XM_017001001.1:c.3221C=	XP_016856490.1:p.Ala1074=
XM_017001003.1:c.2480C=	XP_016856492.1:p.Ala827=
XR_001737114.1:n.3885C=
XR_001737115.1:n.3870C=
NM_015102.5:c.4019C= MANE Select	NP_055917.1:p.Ala1340=
NM_001291593.2:c.2480C=	NP_001278522.1:p.Ala827=
NM_001291594.2:c.2483C=	NP_001278523.1:p.Ala828=
NR_111987.2:n.4786C=