Canonical Allele Identifier: CA554358

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5905434C>T , CM000663.2:g.5905434C>T	GRCh38
NC_000001.10:g.5965494C>T , CM000663.1:g.5965494C>T	GRCh37
NC_000001.9:g.5888081C>T	NCBI36
NG_011724.2:g.92038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.1813G>A MANE Select	ENSP00000367398.4:p.Gly605Ser
ENST00000378156.8:c.1813G>A	ENSP00000367398.4:p.Gly605Ser
ENST00000378169.7:c.*714G>A	ENSP00000367411.3:n.*714G>A
ENST00000478423.6:n.1545G>A
ENST00000489180.6:c.1810G>A	ENSP00000423747.1:p.Gly604Ser
ENST00000622020.4:c.1810G>A	ENSP00000481831.2:p.Gly604Ser
NM_001291593.1:c.274G>A	NP_001278522.1:p.Gly92Ser
NM_001291594.1:c.277G>A	NP_001278523.1:p.Gly93Ser
NM_015102.4:c.1813G>A	NP_055917.1:p.Gly605Ser
NR_111987.1:n.2078G>A
XM_006710563.2:c.1813G>A	XP_006710626.1:p.Gly605Ser
XM_006710565.2:c.1813G>A	XP_006710628.1:p.Gly605Ser
XM_011541213.1:c.1810G>A	XP_011539515.1:p.Gly604Ser
XM_011541214.1:c.1813G>A	XP_011539516.1:p.Gly605Ser
XM_011541215.1:c.1702G>A	XP_011539517.1:p.Gly568Ser
XM_011541216.1:c.1813G>A	XP_011539518.1:p.Gly605Ser
XM_011541217.1:c.1813G>A	XP_011539519.1:p.Gly605Ser
XM_011541218.1:c.1813G>A	XP_011539520.1:p.Gly605Ser
XM_011541219.1:c.1759G>A	XP_011539521.1:p.Gly587Ser
XM_011541220.1:c.1813G>A	XP_011539522.1:p.Gly605Ser
XR_946604.1:n.1851G>A
XR_946605.1:n.1851G>A
XM_006710563.3:c.1813G>A	XP_006710626.1:p.Gly605Ser
XM_011541216.2:c.1813G>A	XP_011539518.1:p.Gly605Ser
XM_011541217.2:c.1813G>A	XP_011539519.1:p.Gly605Ser
XM_011541218.2:c.1813G>A	XP_011539520.1:p.Gly605Ser
XM_017000996.1:c.1810G>A	XP_016856485.1:p.Gly604Ser
XM_017000997.1:c.1813G>A	XP_016856486.1:p.Gly605Ser
XM_017000998.1:c.1813G>A	XP_016856487.1:p.Gly605Ser
XM_017000999.1:c.1285G>A	XP_016856488.1:p.Gly429Ser
XM_017001000.2:c.1285G>A	XP_016856489.1:p.Gly429Ser
XM_017001001.1:c.1015G>A	XP_016856490.1:p.Gly339Ser
XM_017001002.1:c.1813G>A	XP_016856491.1:p.Gly605Ser
XM_017001003.1:c.274G>A	XP_016856492.1:p.Gly92Ser
XR_001737114.1:n.1851G>A
XR_001737115.1:n.1851G>A
NM_015102.5:c.1813G>A MANE Select	NP_055917.1:p.Gly605Ser
NM_001291593.2:c.274G>A	NP_001278522.1:p.Gly92Ser
NM_001291594.2:c.277G>A	NP_001278523.1:p.Gly93Ser
NR_111987.2:n.2030G>A