Canonical Allele Identifier: CA1151209214

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863973T= , CM000663.2:g.5863973T=	GRCh38
NC_000001.10:g.5924033T= , CM000663.1:g.5924033T=	GRCh37
NC_000001.9:g.5846620T=	NCBI36
NG_011724.2:g.133499A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4057A= MANE Select	ENSP00000367398.4:p.Thr1353=
ENST00000378156.8:c.4057A=	ENSP00000367398.4:p.Thr1353=
ENST00000378161.5:n.3208A=
ENST00000378169.7:c.*2958A=	ENSP00000367411.3:n.*2958A=
ENST00000460696.1:n.2805A=
ENST00000478423.6:n.3789A=
ENST00000489180.6:c.*1868A=	ENSP00000423747.1:n.*1868A=
NM_001291593.1:c.2518A=	NP_001278522.1:p.Thr840=
NM_001291594.1:c.2521A=	NP_001278523.1:p.Thr841=
NM_015102.4:c.4057A=	NP_055917.1:p.Thr1353=
NR_111987.1:n.4872A=
XM_006710563.2:c.4057A=	XP_006710626.1:p.Thr1353=
XM_006710565.2:c.4057A=	XP_006710628.1:p.Thr1353=
XM_011541213.1:c.4054A=	XP_011539515.1:p.Thr1352=
XM_011541214.1:c.4015A=	XP_011539516.1:p.Thr1339=
XM_011541215.1:c.3946A=	XP_011539517.1:p.Thr1316=
XM_011541216.1:c.4057A=	XP_011539518.1:p.Thr1353=
XM_011541217.1:c.4057A=	XP_011539519.1:p.Thr1353=
XM_011541218.1:c.4057A=	XP_011539520.1:p.Thr1353=
XM_011541219.1:c.4003A=	XP_011539521.1:p.Thr1335=
XM_006710563.3:c.4057A=	XP_006710626.1:p.Thr1353=
XM_011541216.2:c.4057A=	XP_011539518.1:p.Thr1353=
XM_011541217.2:c.4057A=	XP_011539519.1:p.Thr1353=
XM_011541218.2:c.4057A=	XP_011539520.1:p.Thr1353=
XM_017000996.1:c.4012A=	XP_016856485.1:p.Thr1338=
XM_017000997.1:c.4057A=	XP_016856486.1:p.Thr1353=
XM_017000999.1:c.3529A=	XP_016856488.1:p.Thr1177=
XM_017001000.2:c.3529A=	XP_016856489.1:p.Thr1177=
XM_017001001.1:c.3259A=	XP_016856490.1:p.Thr1087=
XM_017001003.1:c.2518A=	XP_016856492.1:p.Thr840=
XR_001737114.1:n.3923A=
XR_001737115.1:n.3908A=
NM_015102.5:c.4057A= MANE Select	NP_055917.1:p.Thr1353=
NM_001291593.2:c.2518A=	NP_001278522.1:p.Thr840=
NM_001291594.2:c.2521A=	NP_001278523.1:p.Thr841=
NR_111987.2:n.4824A=