Canonical Allele Identifier: CA415789321

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5877237T>C , CM000663.2:g.5877237T>C	GRCh38
NC_000001.10:g.5937297T>C , CM000663.1:g.5937297T>C	GRCh37
NC_000001.9:g.5859884T>C	NCBI36
NG_011724.2:g.120235A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.2673A>G MANE Select	NP_055917.1:p.Leu891=
ENST00000378156.9:c.2673A>G MANE Select	ENSP00000367398.4:p.Leu891=
NM_001291593.1:c.1134A>G	NP_001278522.1:p.Leu378=
NM_001291593.2:c.1134A>G	NP_001278522.1:p.Leu378=
NM_001291594.1:c.1137A>G	NP_001278523.1:p.Leu379=
NM_001291594.2:c.1137A>G	NP_001278523.1:p.Leu379=
NM_015102.4:c.2673A>G	NP_055917.1:p.Leu891=
NR_111987.1:n.3225A>G
NR_111987.2:n.3177A>G
ENST00000378156.8:c.2673A>G	ENSP00000367398.4:p.Leu891=
ENST00000378169.7:c.*1574A>G	ENSP00000367411.3:n.*1574A>G
ENST00000470763.1:n.2798A>G
ENST00000478423.6:n.2405A>G
ENST00000489180.6:c.*221A>G	ENSP00000423747.1:n.*221A>G
ENST00000506941.1:n.230A>G
XM_006710563.2:c.2673A>G	XP_006710626.1:p.Leu891=
XM_006710563.3:c.2673A>G	XP_006710626.1:p.Leu891=
XM_006710565.2:c.2673A>G	XP_006710628.1:p.Leu891=
XM_011541213.1:c.2670A>G	XP_011539515.1:p.Leu890=
XM_011541214.1:c.2673A>G	XP_011539516.1:p.Leu891=
XM_011541215.1:c.2562A>G	XP_011539517.1:p.Leu854=
XM_011541216.1:c.2673A>G	XP_011539518.1:p.Leu891=
XM_011541216.2:c.2673A>G	XP_011539518.1:p.Leu891=
XM_011541217.1:c.2673A>G	XP_011539519.1:p.Leu891=
XM_011541217.2:c.2673A>G	XP_011539519.1:p.Leu891=
XM_011541218.1:c.2673A>G	XP_011539520.1:p.Leu891=
XM_011541218.2:c.2673A>G	XP_011539520.1:p.Leu891=
XM_011541219.1:c.2619A>G	XP_011539521.1:p.Leu873=
XM_011541220.1:c.2673A>G	XP_011539522.1:p.Leu891=
XM_017000996.1:c.2670A>G	XP_016856485.1:p.Leu890=
XM_017000997.1:c.2673A>G	XP_016856486.1:p.Leu891=
XM_017000998.1:c.2673A>G	XP_016856487.1:p.Leu891=
XM_017000999.1:c.2145A>G	XP_016856488.1:p.Leu715=
XM_017001000.2:c.2145A>G	XP_016856489.1:p.Leu715=
XM_017001001.1:c.1875A>G	XP_016856490.1:p.Leu625=
XM_017001002.1:c.2673A>G	XP_016856491.1:p.Leu891=
XM_017001003.1:c.1134A>G	XP_016856492.1:p.Leu378=
XR_001737114.1:n.2711A>G
XR_001737115.1:n.2711A>G
XR_946604.1:n.2711A>G
XR_946605.1:n.2550A>G