Canonical Allele Identifier: CA338049125

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924047T>C (hg19) ; chr1:g.5863987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863987T>C , CM000663.2:g.5863987T>C	GRCh38
NC_000001.10:g.5924047T>C , CM000663.1:g.5924047T>C	GRCh37
NC_000001.9:g.5846634T>C	NCBI36
NG_011724.2:g.133485A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4043A>G MANE Select	ENSP00000367398.4:p.Lys1348Arg
ENST00000378156.8:c.4043A>G	ENSP00000367398.4:p.Lys1348Arg
ENST00000378161.5:n.3194A>G
ENST00000378169.7:c.*2944A>G	ENSP00000367411.3:n.*2944A>G
ENST00000460696.1:n.2791A>G
ENST00000478423.6:n.3775A>G
ENST00000489180.6:c.*1854A>G	ENSP00000423747.1:n.*1854A>G
NM_001291593.1:c.2504A>G	NP_001278522.1:p.Lys835Arg
NM_001291594.1:c.2507A>G	NP_001278523.1:p.Lys836Arg
NM_015102.4:c.4043A>G	NP_055917.1:p.Lys1348Arg
NR_111987.1:n.4858A>G
XM_006710563.2:c.4043A>G	XP_006710626.1:p.Lys1348Arg
XM_006710565.2:c.4043A>G	XP_006710628.1:p.Lys1348Arg
XM_011541213.1:c.4040A>G	XP_011539515.1:p.Lys1347Arg
XM_011541214.1:c.4001A>G	XP_011539516.1:p.Lys1334Arg
XM_011541215.1:c.3932A>G	XP_011539517.1:p.Lys1311Arg
XM_011541216.1:c.4043A>G	XP_011539518.1:p.Lys1348Arg
XM_011541217.1:c.4043A>G	XP_011539519.1:p.Lys1348Arg
XM_011541218.1:c.4043A>G	XP_011539520.1:p.Lys1348Arg
XM_011541219.1:c.3989A>G	XP_011539521.1:p.Lys1330Arg
XM_006710563.3:c.4043A>G	XP_006710626.1:p.Lys1348Arg
XM_011541216.2:c.4043A>G	XP_011539518.1:p.Lys1348Arg
XM_011541217.2:c.4043A>G	XP_011539519.1:p.Lys1348Arg
XM_011541218.2:c.4043A>G	XP_011539520.1:p.Lys1348Arg
XM_017000996.1:c.3998A>G	XP_016856485.1:p.Lys1333Arg
XM_017000997.1:c.4043A>G	XP_016856486.1:p.Lys1348Arg
XM_017000999.1:c.3515A>G	XP_016856488.1:p.Lys1172Arg
XM_017001000.2:c.3515A>G	XP_016856489.1:p.Lys1172Arg
XM_017001001.1:c.3245A>G	XP_016856490.1:p.Lys1082Arg
XM_017001003.1:c.2504A>G	XP_016856492.1:p.Lys835Arg
XR_001737114.1:n.3909A>G
XR_001737115.1:n.3894A>G
NM_015102.5:c.4043A>G MANE Select	NP_055917.1:p.Lys1348Arg
NM_001291593.2:c.2504A>G	NP_001278522.1:p.Lys835Arg
NM_001291594.2:c.2507A>G	NP_001278523.1:p.Lys836Arg
NR_111987.2:n.4810A>G