Canonical Allele Identifier: CA554488

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5909185G>A , CM000663.2:g.5909185G>A	GRCh38
NC_000001.10:g.5969245G>A , CM000663.1:g.5969245G>A	GRCh37
NC_000001.9:g.5891832G>A	NCBI36
NG_011724.2:g.88287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.1470C>T MANE Select	ENSP00000367398.4:p.Leu490=
ENST00000378156.8:c.1470C>T	ENSP00000367398.4:p.Leu490=
ENST00000378169.7:c.*516-3405C>T	ENSP00000367411.3:n.*516-3405C>T
ENST00000478423.6:n.1344-3402C>T
ENST00000489180.6:c.1470C>T	ENSP00000423747.1:p.Leu490=
ENST00000622020.4:c.1470C>T	ENSP00000481831.2:p.Leu490=
NM_001291593.1:c.76-3405C>T	NP_001278522.1:n.76-3405C>T
NM_001291594.1:c.76-3402C>T	NP_001278523.1:n.76-3402C>T
NM_015102.4:c.1470C>T	NP_055917.1:p.Leu490=
NR_111987.1:n.1738C>T
XM_006710563.2:c.1470C>T	XP_006710626.1:p.Leu490=
XM_006710565.2:c.1470C>T	XP_006710628.1:p.Leu490=
XM_011541213.1:c.1470C>T	XP_011539515.1:p.Leu490=
XM_011541214.1:c.1470C>T	XP_011539516.1:p.Leu490=
XM_011541215.1:c.1470C>T	XP_011539517.1:p.Leu490=
XM_011541216.1:c.1470C>T	XP_011539518.1:p.Leu490=
XM_011541217.1:c.1470C>T	XP_011539519.1:p.Leu490=
XM_011541218.1:c.1470C>T	XP_011539520.1:p.Leu490=
XM_011541219.1:c.1416C>T	XP_011539521.1:p.Leu472=
XM_011541220.1:c.1470C>T	XP_011539522.1:p.Leu490=
XR_946604.1:n.1508C>T
XR_946605.1:n.1508C>T
XM_006710563.3:c.1470C>T	XP_006710626.1:p.Leu490=
XM_011541216.2:c.1470C>T	XP_011539518.1:p.Leu490=
XM_011541217.2:c.1470C>T	XP_011539519.1:p.Leu490=
XM_011541218.2:c.1470C>T	XP_011539520.1:p.Leu490=
XM_017000996.1:c.1470C>T	XP_016856485.1:p.Leu490=
XM_017000997.1:c.1470C>T	XP_016856486.1:p.Leu490=
XM_017000998.1:c.1470C>T	XP_016856487.1:p.Leu490=
XM_017000999.1:c.942C>T	XP_016856488.1:p.Leu314=
XM_017001000.2:c.942C>T	XP_016856489.1:p.Leu314=
XM_017001001.1:c.672C>T	XP_016856490.1:p.Leu224=
XM_017001002.1:c.1470C>T	XP_016856491.1:p.Leu490=
XM_017001003.1:c.76-3405C>T	XP_016856492.1:n.76-3405C>T
XR_001737114.1:n.1508C>T
XR_001737115.1:n.1508C>T
NM_015102.5:c.1470C>T MANE Select	NP_055917.1:p.Leu490=
NM_001291593.2:c.76-3405C>T	NP_001278522.1:n.76-3405C>T
NM_001291594.2:c.76-3402C>T	NP_001278523.1:n.76-3402C>T
NR_111987.2:n.1690C>T