Canonical Allele Identifier: CA1151209170

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863945A= , CM000663.2:g.5863945A=	GRCh38
NC_000001.10:g.5924005A= , CM000663.1:g.5924005A=	GRCh37
NC_000001.9:g.5846592A=	NCBI36
NG_011724.2:g.133527T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4085T= MANE Select	ENSP00000367398.4:p.Phe1362=
ENST00000378156.8:c.4085T=	ENSP00000367398.4:p.Phe1362=
ENST00000378161.5:n.3236T=
ENST00000378169.7:c.*2986T=	ENSP00000367411.3:n.*2986T=
ENST00000460696.1:n.2833T=
ENST00000478423.6:n.3817T=
ENST00000489180.6:c.*1896T=	ENSP00000423747.1:n.*1896T=
NM_001291593.1:c.2546T=	NP_001278522.1:p.Phe849=
NM_001291594.1:c.2549T=	NP_001278523.1:p.Phe850=
NM_015102.4:c.4085T=	NP_055917.1:p.Phe1362=
NR_111987.1:n.4900T=
XM_006710563.2:c.4085T=	XP_006710626.1:p.Phe1362=
XM_006710565.2:c.4085T=	XP_006710628.1:p.Phe1362=
XM_011541213.1:c.4082T=	XP_011539515.1:p.Phe1361=
XM_011541214.1:c.4043T=	XP_011539516.1:p.Phe1348=
XM_011541215.1:c.3974T=	XP_011539517.1:p.Phe1325=
XM_011541216.1:c.4085T=	XP_011539518.1:p.Phe1362=
XM_011541217.1:c.4085T=	XP_011539519.1:p.Phe1362=
XM_011541218.1:c.4085T=	XP_011539520.1:p.Phe1362=
XM_011541219.1:c.4031T=	XP_011539521.1:p.Phe1344=
XM_006710563.3:c.4085T=	XP_006710626.1:p.Phe1362=
XM_011541216.2:c.4085T=	XP_011539518.1:p.Phe1362=
XM_011541217.2:c.4085T=	XP_011539519.1:p.Phe1362=
XM_011541218.2:c.4085T=	XP_011539520.1:p.Phe1362=
XM_017000996.1:c.4040T=	XP_016856485.1:p.Phe1347=
XM_017000997.1:c.4085T=	XP_016856486.1:p.Phe1362=
XM_017000999.1:c.3557T=	XP_016856488.1:p.Phe1186=
XM_017001000.2:c.3557T=	XP_016856489.1:p.Phe1186=
XM_017001001.1:c.3287T=	XP_016856490.1:p.Phe1096=
XM_017001003.1:c.2546T=	XP_016856492.1:p.Phe849=
XR_001737114.1:n.3951T=
XR_001737115.1:n.3936T=
NM_015102.5:c.4085T= MANE Select	NP_055917.1:p.Phe1362=
NM_001291593.2:c.2546T=	NP_001278522.1:p.Phe849=
NM_001291594.2:c.2549T=	NP_001278523.1:p.Phe850=
NR_111987.2:n.4852T=