Canonical Allele Identifier: CA338049116

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924045T>A (hg19) ; chr1:g.5863985T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863985T>A , CM000663.2:g.5863985T>A	GRCh38
NC_000001.10:g.5924045T>A , CM000663.1:g.5924045T>A	GRCh37
NC_000001.9:g.5846632T>A	NCBI36
NG_011724.2:g.133487A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4045A>T MANE Select	ENSP00000367398.4:p.Arg1349Trp
ENST00000378156.8:c.4045A>T	ENSP00000367398.4:p.Arg1349Trp
ENST00000378161.5:n.3196A>T
ENST00000378169.7:c.*2946A>T	ENSP00000367411.3:n.*2946A>T
ENST00000460696.1:n.2793A>T
ENST00000478423.6:n.3777A>T
ENST00000489180.6:c.*1856A>T	ENSP00000423747.1:n.*1856A>T
NM_001291593.1:c.2506A>T	NP_001278522.1:p.Arg836Trp
NM_001291594.1:c.2509A>T	NP_001278523.1:p.Arg837Trp
NM_015102.4:c.4045A>T	NP_055917.1:p.Arg1349Trp
NR_111987.1:n.4860A>T
XM_006710563.2:c.4045A>T	XP_006710626.1:p.Arg1349Trp
XM_006710565.2:c.4045A>T	XP_006710628.1:p.Arg1349Trp
XM_011541213.1:c.4042A>T	XP_011539515.1:p.Arg1348Trp
XM_011541214.1:c.4003A>T	XP_011539516.1:p.Arg1335Trp
XM_011541215.1:c.3934A>T	XP_011539517.1:p.Arg1312Trp
XM_011541216.1:c.4045A>T	XP_011539518.1:p.Arg1349Trp
XM_011541217.1:c.4045A>T	XP_011539519.1:p.Arg1349Trp
XM_011541218.1:c.4045A>T	XP_011539520.1:p.Arg1349Trp
XM_011541219.1:c.3991A>T	XP_011539521.1:p.Arg1331Trp
XM_006710563.3:c.4045A>T	XP_006710626.1:p.Arg1349Trp
XM_011541216.2:c.4045A>T	XP_011539518.1:p.Arg1349Trp
XM_011541217.2:c.4045A>T	XP_011539519.1:p.Arg1349Trp
XM_011541218.2:c.4045A>T	XP_011539520.1:p.Arg1349Trp
XM_017000996.1:c.4000A>T	XP_016856485.1:p.Arg1334Trp
XM_017000997.1:c.4045A>T	XP_016856486.1:p.Arg1349Trp
XM_017000999.1:c.3517A>T	XP_016856488.1:p.Arg1173Trp
XM_017001000.2:c.3517A>T	XP_016856489.1:p.Arg1173Trp
XM_017001001.1:c.3247A>T	XP_016856490.1:p.Arg1083Trp
XM_017001003.1:c.2506A>T	XP_016856492.1:p.Arg836Trp
XR_001737114.1:n.3911A>T
XR_001737115.1:n.3896A>T
NM_015102.5:c.4045A>T MANE Select	NP_055917.1:p.Arg1349Trp
NM_001291593.2:c.2506A>T	NP_001278522.1:p.Arg836Trp
NM_001291594.2:c.2509A>T	NP_001278523.1:p.Arg837Trp
NR_111987.2:n.4812A>T