Canonical Allele Identifier: CA553938

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5877129G>A , CM000663.2:g.5877129G>A	GRCh38
NC_000001.10:g.5937189G>A , CM000663.1:g.5937189G>A	GRCh37
NC_000001.9:g.5859776G>A	NCBI36
NG_011724.2:g.120343C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.2781C>T MANE Select	NP_055917.1:p.Ala927=
ENST00000378156.9:c.2781C>T MANE Select	ENSP00000367398.4:p.Ala927=
NM_001291593.1:c.1242C>T	NP_001278522.1:p.Ala414=
NM_001291593.2:c.1242C>T	NP_001278522.1:p.Ala414=
NM_001291594.1:c.1245C>T	NP_001278523.1:p.Ala415=
NM_001291594.2:c.1245C>T	NP_001278523.1:p.Ala415=
NM_015102.4:c.2781C>T	NP_055917.1:p.Ala927=
NR_111987.1:n.3333C>T
NR_111987.2:n.3285C>T
ENST00000378156.8:c.2781C>T	ENSP00000367398.4:p.Ala927=
ENST00000378169.7:c.*1682C>T	ENSP00000367411.3:n.*1682C>T
ENST00000470763.1:n.2906C>T
ENST00000478423.6:n.2513C>T
ENST00000489180.6:c.*329C>T	ENSP00000423747.1:n.*329C>T
ENST00000506941.1:n.338C>T
XM_006710563.2:c.2781C>T	XP_006710626.1:p.Ala927=
XM_006710563.3:c.2781C>T	XP_006710626.1:p.Ala927=
XM_006710565.2:c.2781C>T	XP_006710628.1:p.Ala927=
XM_011541213.1:c.2778C>T	XP_011539515.1:p.Ala926=
XM_011541214.1:c.2781C>T	XP_011539516.1:p.Ala927=
XM_011541215.1:c.2670C>T	XP_011539517.1:p.Ala890=
XM_011541216.1:c.2781C>T	XP_011539518.1:p.Ala927=
XM_011541216.2:c.2781C>T	XP_011539518.1:p.Ala927=
XM_011541217.1:c.2781C>T	XP_011539519.1:p.Ala927=
XM_011541217.2:c.2781C>T	XP_011539519.1:p.Ala927=
XM_011541218.1:c.2781C>T	XP_011539520.1:p.Ala927=
XM_011541218.2:c.2781C>T	XP_011539520.1:p.Ala927=
XM_011541219.1:c.2727C>T	XP_011539521.1:p.Ala909=
XM_011541220.1:c.2781C>T	XP_011539522.1:p.Ala927=
XM_017000996.1:c.2778C>T	XP_016856485.1:p.Ala926=
XM_017000997.1:c.2781C>T	XP_016856486.1:p.Ala927=
XM_017000998.1:c.2781C>T	XP_016856487.1:p.Ala927=
XM_017000999.1:c.2253C>T	XP_016856488.1:p.Ala751=
XM_017001000.2:c.2253C>T	XP_016856489.1:p.Ala751=
XM_017001001.1:c.1983C>T	XP_016856490.1:p.Ala661=
XM_017001002.1:c.2781C>T	XP_016856491.1:p.Ala927=
XM_017001003.1:c.1242C>T	XP_016856492.1:p.Ala414=
XR_001737114.1:n.2819C>T
XR_001737115.1:n.2819C>T
XR_946604.1:n.2819C>T
XR_946605.1:n.2658C>T