Canonical Allele Identifier: CA1144101880

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863938C= , CM000663.2:g.5863938C=	GRCh38
NC_000001.10:g.5923998C= , CM000663.1:g.5923998C=	GRCh37
NC_000001.9:g.5846585C=	NCBI36
NG_011724.2:g.133534G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4092G= MANE Select	ENSP00000367398.4:p.Leu1364=
ENST00000378156.8:c.4092G=	ENSP00000367398.4:p.Leu1364=
ENST00000378161.5:n.3243G=
ENST00000378169.7:c.*2993G=	ENSP00000367411.3:n.*2993G=
ENST00000460696.1:n.2840G=
ENST00000478423.6:n.3824G=
ENST00000489180.6:c.*1903G=	ENSP00000423747.1:n.*1903G=
NM_001291593.1:c.2553G=	NP_001278522.1:p.Leu851=
NM_001291594.1:c.2556G=	NP_001278523.1:p.Leu852=
NM_015102.4:c.4092G=	NP_055917.1:p.Leu1364=
NR_111987.1:n.4907G=
XM_006710563.2:c.4092G=	XP_006710626.1:p.Leu1364=
XM_006710565.2:c.4092G=	XP_006710628.1:p.Leu1364=
XM_011541213.1:c.4089G=	XP_011539515.1:p.Leu1363=
XM_011541214.1:c.4050G=	XP_011539516.1:p.Leu1350=
XM_011541215.1:c.3981G=	XP_011539517.1:p.Leu1327=
XM_011541216.1:c.4092G=	XP_011539518.1:p.Leu1364=
XM_011541217.1:c.4092G=	XP_011539519.1:p.Leu1364=
XM_011541218.1:c.4092G=	XP_011539520.1:p.Leu1364=
XM_011541219.1:c.4038G=	XP_011539521.1:p.Leu1346=
XM_006710563.3:c.4092G=	XP_006710626.1:p.Leu1364=
XM_011541216.2:c.4092G=	XP_011539518.1:p.Leu1364=
XM_011541217.2:c.4092G=	XP_011539519.1:p.Leu1364=
XM_011541218.2:c.4092G=	XP_011539520.1:p.Leu1364=
XM_017000996.1:c.4047G=	XP_016856485.1:p.Leu1349=
XM_017000997.1:c.4092G=	XP_016856486.1:p.Leu1364=
XM_017000999.1:c.3564G=	XP_016856488.1:p.Leu1188=
XM_017001000.2:c.3564G=	XP_016856489.1:p.Leu1188=
XM_017001001.1:c.3294G=	XP_016856490.1:p.Leu1098=
XM_017001003.1:c.2553G=	XP_016856492.1:p.Leu851=
XR_001737114.1:n.3958G=
XR_001737115.1:n.3943G=
NM_015102.5:c.4092G= MANE Select	NP_055917.1:p.Leu1364=
NM_001291593.2:c.2553G=	NP_001278522.1:p.Leu851=
NM_001291594.2:c.2556G=	NP_001278523.1:p.Leu852=
NR_111987.2:n.4859G=