Canonical Allele Identifier: CA338058756

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5947463C>T (hg19) ; chr1:g.5887403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887403C>T , CM000663.2:g.5887403C>T	GRCh38
NC_000001.10:g.5947463C>T , CM000663.1:g.5947463C>T	GRCh37
NC_000001.9:g.5870050C>T	NCBI36
NG_011724.2:g.110069G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.2368G>A MANE Select	ENSP00000367398.4:p.Glu790Lys
ENST00000378156.8:c.2368G>A	ENSP00000367398.4:p.Glu790Lys
ENST00000378169.7:c.*1269G>A	ENSP00000367411.3:n.*1269G>A
ENST00000466897.1:c.597G>A
ENST00000478423.6:n.2100G>A
ENST00000489180.6:c.2365G>A	ENSP00000423747.1:p.Glu789Lys
ENST00000622020.4:c.2365G>A	ENSP00000481831.2:p.Glu789Lys
NM_001291593.1:c.829G>A	NP_001278522.1:p.Glu277Lys
NM_001291594.1:c.832G>A	NP_001278523.1:p.Glu278Lys
NM_015102.4:c.2368G>A	NP_055917.1:p.Glu790Lys
NR_111987.1:n.2633G>A
XM_006710563.2:c.2368G>A	XP_006710626.1:p.Glu790Lys
XM_006710565.2:c.2368G>A	XP_006710628.1:p.Glu790Lys
XM_011541213.1:c.2365G>A	XP_011539515.1:p.Glu789Lys
XM_011541214.1:c.2368G>A	XP_011539516.1:p.Glu790Lys
XM_011541215.1:c.2257G>A	XP_011539517.1:p.Glu753Lys
XM_011541216.1:c.2368G>A	XP_011539518.1:p.Glu790Lys
XM_011541217.1:c.2368G>A	XP_011539519.1:p.Glu790Lys
XM_011541218.1:c.2368G>A	XP_011539520.1:p.Glu790Lys
XM_011541219.1:c.2314G>A	XP_011539521.1:p.Glu772Lys
XM_011541220.1:c.2368G>A	XP_011539522.1:p.Glu790Lys
XR_946604.1:n.2406G>A
XR_946605.1:n.2245G>A
XM_006710563.3:c.2368G>A	XP_006710626.1:p.Glu790Lys
XM_011541216.2:c.2368G>A	XP_011539518.1:p.Glu790Lys
XM_011541217.2:c.2368G>A	XP_011539519.1:p.Glu790Lys
XM_011541218.2:c.2368G>A	XP_011539520.1:p.Glu790Lys
XM_017000996.1:c.2365G>A	XP_016856485.1:p.Glu789Lys
XM_017000997.1:c.2368G>A	XP_016856486.1:p.Glu790Lys
XM_017000998.1:c.2368G>A	XP_016856487.1:p.Glu790Lys
XM_017000999.1:c.1840G>A	XP_016856488.1:p.Glu614Lys
XM_017001000.2:c.1840G>A	XP_016856489.1:p.Glu614Lys
XM_017001001.1:c.1570G>A	XP_016856490.1:p.Glu524Lys
XM_017001002.1:c.2368G>A	XP_016856491.1:p.Glu790Lys
XM_017001003.1:c.829G>A	XP_016856492.1:p.Glu277Lys
XR_001737114.1:n.2406G>A
XR_001737115.1:n.2406G>A
NM_015102.5:c.2368G>A MANE Select	NP_055917.1:p.Glu790Lys
NM_001291593.2:c.829G>A	NP_001278522.1:p.Glu277Lys
NM_001291594.2:c.832G>A	NP_001278523.1:p.Glu278Lys
NR_111987.2:n.2585G>A