Canonical Allele Identifier: CA338052190

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5867794C>A , CM000663.2:g.5867794C>A	GRCh38
NC_000001.10:g.5927854C>A , CM000663.1:g.5927854C>A	GRCh37
NC_000001.9:g.5850441C>A	NCBI36
NG_011724.2:g.129678G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.3418G>T MANE Select	NP_055917.1:p.Glu1140Ter
ENST00000378156.9:c.3418G>T MANE Select	ENSP00000367398.4:p.Glu1140Ter
NM_001291593.1:c.1879G>T	NP_001278522.1:p.Glu627Ter
NM_001291593.2:c.1879G>T	NP_001278522.1:p.Glu627Ter
NM_001291594.1:c.1882G>T	NP_001278523.1:p.Glu628Ter
NM_001291594.2:c.1882G>T	NP_001278523.1:p.Glu628Ter
NM_015102.4:c.3418G>T	NP_055917.1:p.Glu1140Ter
NR_111987.1:n.4233G>T
NR_111987.2:n.4185G>T
ENST00000378156.8:c.3418G>T	ENSP00000367398.4:p.Glu1140Ter
ENST00000378161.5:n.582G>T
ENST00000378169.7:c.*2319G>T	ENSP00000367411.3:n.*2319G>T
ENST00000468253.1:n.693G>T
ENST00000478423.6:n.3150G>T
ENST00000489180.6:c.*1229G>T	ENSP00000423747.1:n.*1229G>T
XM_006710563.2:c.3418G>T	XP_006710626.1:p.Glu1140Ter
XM_006710563.3:c.3418G>T	XP_006710626.1:p.Glu1140Ter
XM_006710565.2:c.3418G>T	XP_006710628.1:p.Glu1140Ter
XM_011541213.1:c.3415G>T	XP_011539515.1:p.Glu1139Ter
XM_011541214.1:c.3376G>T	XP_011539516.1:p.Glu1126Ter
XM_011541215.1:c.3307G>T	XP_011539517.1:p.Glu1103Ter
XM_011541216.1:c.3418G>T	XP_011539518.1:p.Glu1140Ter
XM_011541216.2:c.3418G>T	XP_011539518.1:p.Glu1140Ter
XM_011541217.1:c.3418G>T	XP_011539519.1:p.Glu1140Ter
XM_011541217.2:c.3418G>T	XP_011539519.1:p.Glu1140Ter
XM_011541218.1:c.3418G>T	XP_011539520.1:p.Glu1140Ter
XM_011541218.2:c.3418G>T	XP_011539520.1:p.Glu1140Ter
XM_011541219.1:c.3364G>T	XP_011539521.1:p.Glu1122Ter
XM_011541220.1:c.3418G>T	XP_011539522.1:p.Glu1140Ter
XM_017000996.1:c.3373G>T	XP_016856485.1:p.Glu1125Ter
XM_017000997.1:c.3418G>T	XP_016856486.1:p.Glu1140Ter
XM_017000998.1:c.3418G>T	XP_016856487.1:p.Glu1140Ter
XM_017000999.1:c.2890G>T	XP_016856488.1:p.Glu964Ter
XM_017001000.2:c.2890G>T	XP_016856489.1:p.Glu964Ter
XM_017001001.1:c.2620G>T	XP_016856490.1:p.Glu874Ter
XM_017001003.1:c.1879G>T	XP_016856492.1:p.Glu627Ter
XR_001737114.1:n.3456G>T
XR_001737115.1:n.3269G>T
XR_946604.1:n.3269G>T