Canonical Allele Identifier: CA242971

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864407G>A , CM000663.2:g.5864407G>A	GRCh38
NC_000001.10:g.5924467G>A , CM000663.1:g.5924467G>A	GRCh37
NC_000001.9:g.5847054G>A	NCBI36
NG_011724.2:g.133065C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.3927C>T MANE Select	NP_055917.1:p.Asp1309=
ENST00000378156.9:c.3927C>T MANE Select	ENSP00000367398.4:p.Asp1309=
NM_001291593.1:c.2388C>T	NP_001278522.1:p.Asp796=
NM_001291593.2:c.2388C>T	NP_001278522.1:p.Asp796=
NM_001291594.1:c.2391C>T	NP_001278523.1:p.Asp797=
NM_001291594.2:c.2391C>T	NP_001278523.1:p.Asp797=
NM_015102.4:c.3927C>T	NP_055917.1:p.Asp1309=
NR_111987.1:n.4742C>T
NR_111987.2:n.4694C>T
ENST00000378156.8:c.3927C>T	ENSP00000367398.4:p.Asp1309=
ENST00000378161.5:n.2774C>T
ENST00000378169.7:c.*2828C>T	ENSP00000367411.3:n.*2828C>T
ENST00000460696.1:n.2675C>T
ENST00000478423.6:n.3659C>T
ENST00000489180.6:c.*1738C>T	ENSP00000423747.1:n.*1738C>T
XM_006710563.2:c.3927C>T	XP_006710626.1:p.Asp1309=
XM_006710563.3:c.3927C>T	XP_006710626.1:p.Asp1309=
XM_006710565.2:c.3927C>T	XP_006710628.1:p.Asp1309=
XM_011541213.1:c.3924C>T	XP_011539515.1:p.Asp1308=
XM_011541214.1:c.3885C>T	XP_011539516.1:p.Asp1295=
XM_011541215.1:c.3816C>T	XP_011539517.1:p.Asp1272=
XM_011541216.1:c.3927C>T	XP_011539518.1:p.Asp1309=
XM_011541216.2:c.3927C>T	XP_011539518.1:p.Asp1309=
XM_011541217.1:c.3927C>T	XP_011539519.1:p.Asp1309=
XM_011541217.2:c.3927C>T	XP_011539519.1:p.Asp1309=
XM_011541218.1:c.3927C>T	XP_011539520.1:p.Asp1309=
XM_011541218.2:c.3927C>T	XP_011539520.1:p.Asp1309=
XM_011541219.1:c.3873C>T	XP_011539521.1:p.Asp1291=
XM_011541220.1:c.*47C>T	XP_011539522.1:n.*47C>T
XM_017000996.1:c.3882C>T	XP_016856485.1:p.Asp1294=
XM_017000997.1:c.3927C>T	XP_016856486.1:p.Asp1309=
XM_017000999.1:c.3399C>T	XP_016856488.1:p.Asp1133=
XM_017001000.2:c.3399C>T	XP_016856489.1:p.Asp1133=
XM_017001001.1:c.3129C>T	XP_016856490.1:p.Asp1043=
XM_017001003.1:c.2388C>T	XP_016856492.1:p.Asp796=
XR_001737114.1:n.3793C>T
XR_001737115.1:n.3778C>T