Canonical Allele Identifier: CA338048890

Gene: NPHP4

Linked Data

• COSMIC: COSM3805651
• MyVariant Identifiers: chr1:g.5923987T>G (hg19) ; chr1:g.5863927T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863927T>G , CM000663.2:g.5863927T>G	GRCh38
NC_000001.10:g.5923987T>G , CM000663.1:g.5923987T>G	GRCh37
NC_000001.9:g.5846574T>G	NCBI36
NG_011724.2:g.133545A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4103A>C MANE Select	ENSP00000367398.4:p.His1368Pro
ENST00000378156.8:c.4103A>C	ENSP00000367398.4:p.His1368Pro
ENST00000378161.5:n.3254A>C
ENST00000378169.7:c.*3004A>C	ENSP00000367411.3:n.*3004A>C
ENST00000460696.1:n.2851A>C
ENST00000478423.6:n.3835A>C
ENST00000489180.6:c.*1914A>C	ENSP00000423747.1:n.*1914A>C
NM_001291593.1:c.2564A>C	NP_001278522.1:p.His855Pro
NM_001291594.1:c.2567A>C	NP_001278523.1:p.His856Pro
NM_015102.4:c.4103A>C	NP_055917.1:p.His1368Pro
NR_111987.1:n.4918A>C
XM_006710563.2:c.4103A>C	XP_006710626.1:p.His1368Pro
XM_006710565.2:c.4103A>C	XP_006710628.1:p.His1368Pro
XM_011541213.1:c.4100A>C	XP_011539515.1:p.His1367Pro
XM_011541214.1:c.4061A>C	XP_011539516.1:p.His1354Pro
XM_011541215.1:c.3992A>C	XP_011539517.1:p.His1331Pro
XM_011541216.1:c.4103A>C	XP_011539518.1:p.His1368Pro
XM_011541217.1:c.4103A>C	XP_011539519.1:p.His1368Pro
XM_011541218.1:c.4103A>C	XP_011539520.1:p.His1368Pro
XM_011541219.1:c.4049A>C	XP_011539521.1:p.His1350Pro
XM_006710563.3:c.4103A>C	XP_006710626.1:p.His1368Pro
XM_011541216.2:c.4103A>C	XP_011539518.1:p.His1368Pro
XM_011541217.2:c.4103A>C	XP_011539519.1:p.His1368Pro
XM_011541218.2:c.4103A>C	XP_011539520.1:p.His1368Pro
XM_017000996.1:c.4058A>C	XP_016856485.1:p.His1353Pro
XM_017000997.1:c.4103A>C	XP_016856486.1:p.His1368Pro
XM_017000999.1:c.3575A>C	XP_016856488.1:p.His1192Pro
XM_017001000.2:c.3575A>C	XP_016856489.1:p.His1192Pro
XM_017001001.1:c.3305A>C	XP_016856490.1:p.His1102Pro
XM_017001003.1:c.2564A>C	XP_016856492.1:p.His855Pro
XR_001737114.1:n.3969A>C
XR_001737115.1:n.3954A>C
NM_015102.5:c.4103A>C MANE Select	NP_055917.1:p.His1368Pro
NM_001291593.2:c.2564A>C	NP_001278522.1:p.His855Pro
NM_001291594.2:c.2567A>C	NP_001278523.1:p.His856Pro
NR_111987.2:n.4870A>C