Canonical Allele Identifier: CA553657

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5867887G>A , CM000663.2:g.5867887G>A	GRCh38
NC_000001.10:g.5927947G>A , CM000663.1:g.5927947G>A	GRCh37
NC_000001.9:g.5850534G>A	NCBI36
NG_011724.2:g.129585C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.3325C>T MANE Select	NP_055917.1:p.Arg1109Ter
ENST00000378156.9:c.3325C>T MANE Select	ENSP00000367398.4:p.Arg1109Ter
NM_001291593.1:c.1786C>T	NP_001278522.1:p.Arg596Ter
NM_001291593.2:c.1786C>T	NP_001278522.1:p.Arg596Ter
NM_001291594.1:c.1789C>T	NP_001278523.1:p.Arg597Ter
NM_001291594.2:c.1789C>T	NP_001278523.1:p.Arg597Ter
NM_015102.4:c.3325C>T	NP_055917.1:p.Arg1109Ter
NR_111987.1:n.4140C>T
NR_111987.2:n.4092C>T
ENST00000378156.8:c.3325C>T	ENSP00000367398.4:p.Arg1109Ter
ENST00000378161.5:n.489C>T
ENST00000378169.7:c.*2226C>T	ENSP00000367411.3:n.*2226C>T
ENST00000468253.1:n.600C>T
ENST00000478423.6:n.3057C>T
ENST00000489180.6:c.*1136C>T	ENSP00000423747.1:n.*1136C>T
XM_006710563.2:c.3325C>T	XP_006710626.1:p.Arg1109Ter
XM_006710563.3:c.3325C>T	XP_006710626.1:p.Arg1109Ter
XM_006710565.2:c.3325C>T	XP_006710628.1:p.Arg1109Ter
XM_011541213.1:c.3322C>T	XP_011539515.1:p.Arg1108Ter
XM_011541214.1:c.3283C>T	XP_011539516.1:p.Arg1095Ter
XM_011541215.1:c.3214C>T	XP_011539517.1:p.Arg1072Ter
XM_011541216.1:c.3325C>T	XP_011539518.1:p.Arg1109Ter
XM_011541216.2:c.3325C>T	XP_011539518.1:p.Arg1109Ter
XM_011541217.1:c.3325C>T	XP_011539519.1:p.Arg1109Ter
XM_011541217.2:c.3325C>T	XP_011539519.1:p.Arg1109Ter
XM_011541218.1:c.3325C>T	XP_011539520.1:p.Arg1109Ter
XM_011541218.2:c.3325C>T	XP_011539520.1:p.Arg1109Ter
XM_011541219.1:c.3271C>T	XP_011539521.1:p.Arg1091Ter
XM_011541220.1:c.3325C>T	XP_011539522.1:p.Arg1109Ter
XM_017000996.1:c.3280C>T	XP_016856485.1:p.Arg1094Ter
XM_017000997.1:c.3325C>T	XP_016856486.1:p.Arg1109Ter
XM_017000998.1:c.3325C>T	XP_016856487.1:p.Arg1109Ter
XM_017000999.1:c.2797C>T	XP_016856488.1:p.Arg933Ter
XM_017001000.2:c.2797C>T	XP_016856489.1:p.Arg933Ter
XM_017001001.1:c.2527C>T	XP_016856490.1:p.Arg843Ter
XM_017001003.1:c.1786C>T	XP_016856492.1:p.Arg596Ter
XR_001737114.1:n.3363C>T
XR_001737115.1:n.3176C>T
XR_946604.1:n.3176C>T