Canonical Allele Identifier: CA1151209219

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863975T= , CM000663.2:g.5863975T=	GRCh38
NC_000001.10:g.5924035T= , CM000663.1:g.5924035T=	GRCh37
NC_000001.9:g.5846622T=	NCBI36
NG_011724.2:g.133497A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4055A= MANE Select	ENSP00000367398.4:p.Tyr1352=
ENST00000378156.8:c.4055A=	ENSP00000367398.4:p.Tyr1352=
ENST00000378161.5:n.3206A=
ENST00000378169.7:c.*2956A=	ENSP00000367411.3:n.*2956A=
ENST00000460696.1:n.2803A=
ENST00000478423.6:n.3787A=
ENST00000489180.6:c.*1866A=	ENSP00000423747.1:n.*1866A=
NM_001291593.1:c.2516A=	NP_001278522.1:p.Tyr839=
NM_001291594.1:c.2519A=	NP_001278523.1:p.Tyr840=
NM_015102.4:c.4055A=	NP_055917.1:p.Tyr1352=
NR_111987.1:n.4870A=
XM_006710563.2:c.4055A=	XP_006710626.1:p.Tyr1352=
XM_006710565.2:c.4055A=	XP_006710628.1:p.Tyr1352=
XM_011541213.1:c.4052A=	XP_011539515.1:p.Tyr1351=
XM_011541214.1:c.4013A=	XP_011539516.1:p.Tyr1338=
XM_011541215.1:c.3944A=	XP_011539517.1:p.Tyr1315=
XM_011541216.1:c.4055A=	XP_011539518.1:p.Tyr1352=
XM_011541217.1:c.4055A=	XP_011539519.1:p.Tyr1352=
XM_011541218.1:c.4055A=	XP_011539520.1:p.Tyr1352=
XM_011541219.1:c.4001A=	XP_011539521.1:p.Tyr1334=
XM_006710563.3:c.4055A=	XP_006710626.1:p.Tyr1352=
XM_011541216.2:c.4055A=	XP_011539518.1:p.Tyr1352=
XM_011541217.2:c.4055A=	XP_011539519.1:p.Tyr1352=
XM_011541218.2:c.4055A=	XP_011539520.1:p.Tyr1352=
XM_017000996.1:c.4010A=	XP_016856485.1:p.Tyr1337=
XM_017000997.1:c.4055A=	XP_016856486.1:p.Tyr1352=
XM_017000999.1:c.3527A=	XP_016856488.1:p.Tyr1176=
XM_017001000.2:c.3527A=	XP_016856489.1:p.Tyr1176=
XM_017001001.1:c.3257A=	XP_016856490.1:p.Tyr1086=
XM_017001003.1:c.2516A=	XP_016856492.1:p.Tyr839=
XR_001737114.1:n.3921A=
XR_001737115.1:n.3906A=
NM_015102.5:c.4055A= MANE Select	NP_055917.1:p.Tyr1352=
NM_001291593.2:c.2516A=	NP_001278522.1:p.Tyr839=
NM_001291594.2:c.2519A=	NP_001278523.1:p.Tyr840=
NR_111987.2:n.4822A=