Canonical Allele Identifier: CA10830782

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5953069G>A , CM000663.2:g.5953069G>A	GRCh38
NC_000001.10:g.6013129G>A , CM000663.1:g.6013129G>A	GRCh37
NC_000001.9:g.5935716G>A	NCBI36
NG_011724.2:g.44403C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.674-233C>T MANE Select	NP_055917.1:n.674-233C>T
ENST00000378156.9:c.674-233C>T MANE Select	ENSP00000367398.4:n.674-233C>T
NM_001291593.1:c.-556-4818C>T	NP_001278522.1:n.-556-4818C>T
NM_001291593.2:c.-556-4818C>T	NP_001278522.1:n.-556-4818C>T
NM_001291594.1:c.-693-233C>T	NP_001278523.1:n.-693-233C>T
NM_001291594.2:c.-693-233C>T	NP_001278523.1:n.-693-233C>T
NM_015102.4:c.674-233C>T	NP_055917.1:n.674-233C>T
NR_111987.1:n.942-233C>T
NR_111987.2:n.894-233C>T
ENST00000378156.8:c.674-233C>T	ENSP00000367398.4:n.674-233C>T
ENST00000378169.7:c.674-4818C>T	ENSP00000367411.3:n.674-4818C>T
ENST00000478423.6:n.576-233C>T
ENST00000489180.6:c.674-233C>T	ENSP00000423747.1:n.674-233C>T
ENST00000622020.4:c.674-233C>T	ENSP00000481831.2:n.674-233C>T
XM_006710563.2:c.674-233C>T	XP_006710626.1:n.674-233C>T
XM_006710563.3:c.674-233C>T	XP_006710626.1:n.674-233C>T
XM_006710565.2:c.674-233C>T	XP_006710628.1:n.674-233C>T
XM_011541213.1:c.674-233C>T	XP_011539515.1:n.674-233C>T
XM_011541214.1:c.674-233C>T	XP_011539516.1:n.674-233C>T
XM_011541215.1:c.674-233C>T	XP_011539517.1:n.674-233C>T
XM_011541216.1:c.674-233C>T	XP_011539518.1:n.674-233C>T
XM_011541216.2:c.674-233C>T	XP_011539518.1:n.674-233C>T
XM_011541217.1:c.674-233C>T	XP_011539519.1:n.674-233C>T
XM_011541217.2:c.674-233C>T	XP_011539519.1:n.674-233C>T
XM_011541218.1:c.674-233C>T	XP_011539520.1:n.674-233C>T
XM_011541218.2:c.674-233C>T	XP_011539520.1:n.674-233C>T
XM_011541219.1:c.620-233C>T	XP_011539521.1:n.620-233C>T
XM_011541220.1:c.674-233C>T	XP_011539522.1:n.674-233C>T
XM_017000996.1:c.674-233C>T	XP_016856485.1:n.674-233C>T
XM_017000997.1:c.674-233C>T	XP_016856486.1:n.674-233C>T
XM_017000998.1:c.674-233C>T	XP_016856487.1:n.674-233C>T
XM_017000999.1:c.146-233C>T	XP_016856488.1:n.146-233C>T
XM_017001000.2:c.146-233C>T	XP_016856489.1:n.146-233C>T
XM_017001001.1:c.13-4818C>T	XP_016856490.1:n.13-4818C>T
XM_017001002.1:c.674-233C>T	XP_016856491.1:n.674-233C>T
XR_001737114.1:n.712-233C>T
XR_001737115.1:n.712-233C>T
XR_946604.1:n.712-233C>T
XR_946605.1:n.712-233C>T