Canonical Allele Identifier: CA554282

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5904686C>T , CM000663.2:g.5904686C>T	GRCh38
NC_000001.10:g.5964746C>T , CM000663.1:g.5964746C>T	GRCh37
NC_000001.9:g.5887333C>T	NCBI36
NG_011724.2:g.92786G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.2074G>A MANE Select	NP_055917.1:p.Gly692Ser
ENST00000378156.9:c.2074G>A MANE Select	ENSP00000367398.4:p.Gly692Ser
NM_001291593.1:c.535G>A	NP_001278522.1:p.Gly179Ser
NM_001291593.2:c.535G>A	NP_001278522.1:p.Gly179Ser
NM_001291594.1:c.538G>A	NP_001278523.1:p.Gly180Ser
NM_001291594.2:c.538G>A	NP_001278523.1:p.Gly180Ser
NM_015102.4:c.2074G>A	NP_055917.1:p.Gly692Ser
NR_111987.1:n.2339G>A
NR_111987.2:n.2291G>A
ENST00000378156.8:c.2074G>A	ENSP00000367398.4:p.Gly692Ser
ENST00000378169.7:c.*975G>A	ENSP00000367411.3:n.*975G>A
ENST00000466897.1:c.152G>A
ENST00000478423.6:n.1806G>A
ENST00000489180.6:c.2071G>A	ENSP00000423747.1:p.Gly691Ser
ENST00000622020.4:c.2071G>A	ENSP00000481831.2:p.Gly691Ser
XM_006710563.2:c.2074G>A	XP_006710626.1:p.Gly692Ser
XM_006710563.3:c.2074G>A	XP_006710626.1:p.Gly692Ser
XM_006710565.2:c.2074G>A	XP_006710628.1:p.Gly692Ser
XM_011541213.1:c.2071G>A	XP_011539515.1:p.Gly691Ser
XM_011541214.1:c.2074G>A	XP_011539516.1:p.Gly692Ser
XM_011541215.1:c.1963G>A	XP_011539517.1:p.Gly655Ser
XM_011541216.1:c.2074G>A	XP_011539518.1:p.Gly692Ser
XM_011541216.2:c.2074G>A	XP_011539518.1:p.Gly692Ser
XM_011541217.1:c.2074G>A	XP_011539519.1:p.Gly692Ser
XM_011541217.2:c.2074G>A	XP_011539519.1:p.Gly692Ser
XM_011541218.1:c.2074G>A	XP_011539520.1:p.Gly692Ser
XM_011541218.2:c.2074G>A	XP_011539520.1:p.Gly692Ser
XM_011541219.1:c.2020G>A	XP_011539521.1:p.Gly674Ser
XM_011541220.1:c.2074G>A	XP_011539522.1:p.Gly692Ser
XM_017000996.1:c.2071G>A	XP_016856485.1:p.Gly691Ser
XM_017000997.1:c.2074G>A	XP_016856486.1:p.Gly692Ser
XM_017000998.1:c.2074G>A	XP_016856487.1:p.Gly692Ser
XM_017000999.1:c.1546G>A	XP_016856488.1:p.Gly516Ser
XM_017001000.2:c.1546G>A	XP_016856489.1:p.Gly516Ser
XM_017001001.1:c.1276G>A	XP_016856490.1:p.Gly426Ser
XM_017001002.1:c.2074G>A	XP_016856491.1:p.Gly692Ser
XM_017001003.1:c.535G>A	XP_016856492.1:p.Gly179Ser
XR_001737114.1:n.2112G>A
XR_001737115.1:n.2112G>A
XR_946604.1:n.2112G>A
XR_946605.1:n.2112G>A