Canonical Allele Identifier: CA1151209294

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864020A= , CM000663.2:g.5864020A=	GRCh38
NC_000001.10:g.5924080A= , CM000663.1:g.5924080A=	GRCh37
NC_000001.9:g.5846667A=	NCBI36
NG_011724.2:g.133452T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4010T= MANE Select	ENSP00000367398.4:p.Met1337=
ENST00000378156.8:c.4010T=	ENSP00000367398.4:p.Met1337=
ENST00000378161.5:n.3161T=
ENST00000378169.7:c.*2911T=	ENSP00000367411.3:n.*2911T=
ENST00000460696.1:n.2758T=
ENST00000478423.6:n.3742T=
ENST00000489180.6:c.*1821T=	ENSP00000423747.1:n.*1821T=
NM_001291593.1:c.2471T=	NP_001278522.1:p.Met824=
NM_001291594.1:c.2474T=	NP_001278523.1:p.Met825=
NM_015102.4:c.4010T=	NP_055917.1:p.Met1337=
NR_111987.1:n.4825T=
XM_006710563.2:c.4010T=	XP_006710626.1:p.Met1337=
XM_006710565.2:c.4010T=	XP_006710628.1:p.Met1337=
XM_011541213.1:c.4007T=	XP_011539515.1:p.Met1336=
XM_011541214.1:c.3968T=	XP_011539516.1:p.Met1323=
XM_011541215.1:c.3899T=	XP_011539517.1:p.Met1300=
XM_011541216.1:c.4010T=	XP_011539518.1:p.Met1337=
XM_011541217.1:c.4010T=	XP_011539519.1:p.Met1337=
XM_011541218.1:c.4010T=	XP_011539520.1:p.Met1337=
XM_011541219.1:c.3956T=	XP_011539521.1:p.Met1319=
XM_006710563.3:c.4010T=	XP_006710626.1:p.Met1337=
XM_011541216.2:c.4010T=	XP_011539518.1:p.Met1337=
XM_011541217.2:c.4010T=	XP_011539519.1:p.Met1337=
XM_011541218.2:c.4010T=	XP_011539520.1:p.Met1337=
XM_017000996.1:c.3965T=	XP_016856485.1:p.Met1322=
XM_017000997.1:c.4010T=	XP_016856486.1:p.Met1337=
XM_017000999.1:c.3482T=	XP_016856488.1:p.Met1161=
XM_017001000.2:c.3482T=	XP_016856489.1:p.Met1161=
XM_017001001.1:c.3212T=	XP_016856490.1:p.Met1071=
XM_017001003.1:c.2471T=	XP_016856492.1:p.Met824=
XR_001737114.1:n.3876T=
XR_001737115.1:n.3861T=
NM_015102.5:c.4010T= MANE Select	NP_055917.1:p.Met1337=
NM_001291593.2:c.2471T=	NP_001278522.1:p.Met824=
NM_001291594.2:c.2474T=	NP_001278523.1:p.Met825=
NR_111987.2:n.4777T=