Canonical Allele Identifier: CA1140495329

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5874946A= , CM000663.2:g.5874946A=	GRCh38
NC_000001.10:g.5935006A= , CM000663.1:g.5935006A=	GRCh37
NC_000001.9:g.5857593A=	NCBI36
NG_011724.2:g.122526T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.2972T= MANE Select	ENSP00000367398.4:p.Phe991=
ENST00000378156.8:c.2972T=	ENSP00000367398.4:p.Phe991=
ENST00000378169.7:c.*1873T=	ENSP00000367411.3:n.*1873T=
ENST00000478423.6:n.2704T=
ENST00000489180.6:c.*783T=	ENSP00000423747.1:n.*783T=
ENST00000506941.1:n.529T=
NM_001291593.1:c.1433T=	NP_001278522.1:p.Phe478=
NM_001291594.1:c.1436T=	NP_001278523.1:p.Phe479=
NM_015102.4:c.2972T=	NP_055917.1:p.Phe991=
NR_111987.1:n.3787T=
XM_006710563.2:c.2972T=	XP_006710626.1:p.Phe991=
XM_006710565.2:c.2972T=	XP_006710628.1:p.Phe991=
XM_011541213.1:c.2969T=	XP_011539515.1:p.Phe990=
XM_011541214.1:c.2930T=	XP_011539516.1:p.Phe977=
XM_011541215.1:c.2861T=	XP_011539517.1:p.Phe954=
XM_011541216.1:c.2972T=	XP_011539518.1:p.Phe991=
XM_011541217.1:c.2972T=	XP_011539519.1:p.Phe991=
XM_011541218.1:c.2972T=	XP_011539520.1:p.Phe991=
XM_011541219.1:c.2918T=	XP_011539521.1:p.Phe973=
XM_011541220.1:c.2972T=	XP_011539522.1:p.Phe991=
XR_946604.1:n.3010T=
XM_006710563.3:c.2972T=	XP_006710626.1:p.Phe991=
XM_011541216.2:c.2972T=	XP_011539518.1:p.Phe991=
XM_011541217.2:c.2972T=	XP_011539519.1:p.Phe991=
XM_011541218.2:c.2972T=	XP_011539520.1:p.Phe991=
XM_017000996.1:c.2927T=	XP_016856485.1:p.Phe976=
XM_017000997.1:c.2972T=	XP_016856486.1:p.Phe991=
XM_017000998.1:c.2972T=	XP_016856487.1:p.Phe991=
XM_017000999.1:c.2444T=	XP_016856488.1:p.Phe815=
XM_017001000.2:c.2444T=	XP_016856489.1:p.Phe815=
XM_017001001.1:c.2174T=	XP_016856490.1:p.Phe725=
XM_017001003.1:c.1433T=	XP_016856492.1:p.Phe478=
XR_001737114.1:n.3010T=
XR_001737115.1:n.3010T=
NM_015102.5:c.2972T= MANE Select	NP_055917.1:p.Phe991=
NM_001291593.2:c.1433T=	NP_001278522.1:p.Phe478=
NM_001291594.2:c.1436T=	NP_001278523.1:p.Phe479=
NR_111987.2:n.3739T=