Canonical Allele Identifier: CA338049132

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924048T>G (hg19) ; chr1:g.5863988T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863988T>G , CM000663.2:g.5863988T>G	GRCh38
NC_000001.10:g.5924048T>G , CM000663.1:g.5924048T>G	GRCh37
NC_000001.9:g.5846635T>G	NCBI36
NG_011724.2:g.133484A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4042A>C MANE Select	ENSP00000367398.4:p.Lys1348Gln
ENST00000378156.8:c.4042A>C	ENSP00000367398.4:p.Lys1348Gln
ENST00000378161.5:n.3193A>C
ENST00000378169.7:c.*2943A>C	ENSP00000367411.3:n.*2943A>C
ENST00000460696.1:n.2790A>C
ENST00000478423.6:n.3774A>C
ENST00000489180.6:c.*1853A>C	ENSP00000423747.1:n.*1853A>C
NM_001291593.1:c.2503A>C	NP_001278522.1:p.Lys835Gln
NM_001291594.1:c.2506A>C	NP_001278523.1:p.Lys836Gln
NM_015102.4:c.4042A>C	NP_055917.1:p.Lys1348Gln
NR_111987.1:n.4857A>C
XM_006710563.2:c.4042A>C	XP_006710626.1:p.Lys1348Gln
XM_006710565.2:c.4042A>C	XP_006710628.1:p.Lys1348Gln
XM_011541213.1:c.4039A>C	XP_011539515.1:p.Lys1347Gln
XM_011541214.1:c.4000A>C	XP_011539516.1:p.Lys1334Gln
XM_011541215.1:c.3931A>C	XP_011539517.1:p.Lys1311Gln
XM_011541216.1:c.4042A>C	XP_011539518.1:p.Lys1348Gln
XM_011541217.1:c.4042A>C	XP_011539519.1:p.Lys1348Gln
XM_011541218.1:c.4042A>C	XP_011539520.1:p.Lys1348Gln
XM_011541219.1:c.3988A>C	XP_011539521.1:p.Lys1330Gln
XM_006710563.3:c.4042A>C	XP_006710626.1:p.Lys1348Gln
XM_011541216.2:c.4042A>C	XP_011539518.1:p.Lys1348Gln
XM_011541217.2:c.4042A>C	XP_011539519.1:p.Lys1348Gln
XM_011541218.2:c.4042A>C	XP_011539520.1:p.Lys1348Gln
XM_017000996.1:c.3997A>C	XP_016856485.1:p.Lys1333Gln
XM_017000997.1:c.4042A>C	XP_016856486.1:p.Lys1348Gln
XM_017000999.1:c.3514A>C	XP_016856488.1:p.Lys1172Gln
XM_017001000.2:c.3514A>C	XP_016856489.1:p.Lys1172Gln
XM_017001001.1:c.3244A>C	XP_016856490.1:p.Lys1082Gln
XM_017001003.1:c.2503A>C	XP_016856492.1:p.Lys835Gln
XR_001737114.1:n.3908A>C
XR_001737115.1:n.3893A>C
NM_015102.5:c.4042A>C MANE Select	NP_055917.1:p.Lys1348Gln
NM_001291593.2:c.2503A>C	NP_001278522.1:p.Lys835Gln
NM_001291594.2:c.2506A>C	NP_001278523.1:p.Lys836Gln
NR_111987.2:n.4809A>C