Canonical Allele Identifier: CA553958

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5877193C>T , CM000663.2:g.5877193C>T	GRCh38
NC_000001.10:g.5937253C>T , CM000663.1:g.5937253C>T	GRCh37
NC_000001.9:g.5859840C>T	NCBI36
NG_011724.2:g.120279G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.2717G>A MANE Select	NP_055917.1:p.Arg906His
ENST00000378156.9:c.2717G>A MANE Select	ENSP00000367398.4:p.Arg906His
NM_001291593.1:c.1178G>A	NP_001278522.1:p.Arg393His
NM_001291593.2:c.1178G>A	NP_001278522.1:p.Arg393His
NM_001291594.1:c.1181G>A	NP_001278523.1:p.Arg394His
NM_001291594.2:c.1181G>A	NP_001278523.1:p.Arg394His
NM_015102.4:c.2717G>A	NP_055917.1:p.Arg906His
NR_111987.1:n.3269G>A
NR_111987.2:n.3221G>A
ENST00000378156.8:c.2717G>A	ENSP00000367398.4:p.Arg906His
ENST00000378169.7:c.*1618G>A	ENSP00000367411.3:n.*1618G>A
ENST00000470763.1:n.2842G>A
ENST00000478423.6:n.2449G>A
ENST00000489180.6:c.*265G>A	ENSP00000423747.1:n.*265G>A
ENST00000506941.1:n.274G>A
XM_006710563.2:c.2717G>A	XP_006710626.1:p.Arg906His
XM_006710563.3:c.2717G>A	XP_006710626.1:p.Arg906His
XM_006710565.2:c.2717G>A	XP_006710628.1:p.Arg906His
XM_011541213.1:c.2714G>A	XP_011539515.1:p.Arg905His
XM_011541214.1:c.2717G>A	XP_011539516.1:p.Arg906His
XM_011541215.1:c.2606G>A	XP_011539517.1:p.Arg869His
XM_011541216.1:c.2717G>A	XP_011539518.1:p.Arg906His
XM_011541216.2:c.2717G>A	XP_011539518.1:p.Arg906His
XM_011541217.1:c.2717G>A	XP_011539519.1:p.Arg906His
XM_011541217.2:c.2717G>A	XP_011539519.1:p.Arg906His
XM_011541218.1:c.2717G>A	XP_011539520.1:p.Arg906His
XM_011541218.2:c.2717G>A	XP_011539520.1:p.Arg906His
XM_011541219.1:c.2663G>A	XP_011539521.1:p.Arg888His
XM_011541220.1:c.2717G>A	XP_011539522.1:p.Arg906His
XM_017000996.1:c.2714G>A	XP_016856485.1:p.Arg905His
XM_017000997.1:c.2717G>A	XP_016856486.1:p.Arg906His
XM_017000998.1:c.2717G>A	XP_016856487.1:p.Arg906His
XM_017000999.1:c.2189G>A	XP_016856488.1:p.Arg730His
XM_017001000.2:c.2189G>A	XP_016856489.1:p.Arg730His
XM_017001001.1:c.1919G>A	XP_016856490.1:p.Arg640His
XM_017001002.1:c.2717G>A	XP_016856491.1:p.Arg906His
XM_017001003.1:c.1178G>A	XP_016856492.1:p.Arg393His
XR_001737114.1:n.2755G>A
XR_001737115.1:n.2755G>A
XR_946604.1:n.2755G>A
XR_946605.1:n.2594G>A