Canonical Allele Identifier: CA1151209162

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863939A= , CM000663.2:g.5863939A=	GRCh38
NC_000001.10:g.5923999A= , CM000663.1:g.5923999A=	GRCh37
NC_000001.9:g.5846586A=	NCBI36
NG_011724.2:g.133533T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4091T= MANE Select	ENSP00000367398.4:p.Leu1364=
ENST00000378156.8:c.4091T=	ENSP00000367398.4:p.Leu1364=
ENST00000378161.5:n.3242T=
ENST00000378169.7:c.*2992T=	ENSP00000367411.3:n.*2992T=
ENST00000460696.1:n.2839T=
ENST00000478423.6:n.3823T=
ENST00000489180.6:c.*1902T=	ENSP00000423747.1:n.*1902T=
NM_001291593.1:c.2552T=	NP_001278522.1:p.Leu851=
NM_001291594.1:c.2555T=	NP_001278523.1:p.Leu852=
NM_015102.4:c.4091T=	NP_055917.1:p.Leu1364=
NR_111987.1:n.4906T=
XM_006710563.2:c.4091T=	XP_006710626.1:p.Leu1364=
XM_006710565.2:c.4091T=	XP_006710628.1:p.Leu1364=
XM_011541213.1:c.4088T=	XP_011539515.1:p.Leu1363=
XM_011541214.1:c.4049T=	XP_011539516.1:p.Leu1350=
XM_011541215.1:c.3980T=	XP_011539517.1:p.Leu1327=
XM_011541216.1:c.4091T=	XP_011539518.1:p.Leu1364=
XM_011541217.1:c.4091T=	XP_011539519.1:p.Leu1364=
XM_011541218.1:c.4091T=	XP_011539520.1:p.Leu1364=
XM_011541219.1:c.4037T=	XP_011539521.1:p.Leu1346=
XM_006710563.3:c.4091T=	XP_006710626.1:p.Leu1364=
XM_011541216.2:c.4091T=	XP_011539518.1:p.Leu1364=
XM_011541217.2:c.4091T=	XP_011539519.1:p.Leu1364=
XM_011541218.2:c.4091T=	XP_011539520.1:p.Leu1364=
XM_017000996.1:c.4046T=	XP_016856485.1:p.Leu1349=
XM_017000997.1:c.4091T=	XP_016856486.1:p.Leu1364=
XM_017000999.1:c.3563T=	XP_016856488.1:p.Leu1188=
XM_017001000.2:c.3563T=	XP_016856489.1:p.Leu1188=
XM_017001001.1:c.3293T=	XP_016856490.1:p.Leu1098=
XM_017001003.1:c.2552T=	XP_016856492.1:p.Leu851=
XR_001737114.1:n.3957T=
XR_001737115.1:n.3942T=
NM_015102.5:c.4091T= MANE Select	NP_055917.1:p.Leu1364=
NM_001291593.2:c.2552T=	NP_001278522.1:p.Leu851=
NM_001291594.2:c.2555T=	NP_001278523.1:p.Leu852=
NR_111987.2:n.4858T=