Canonical Allele Identifier: CA553576

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5867070C>T , CM000663.2:g.5867070C>T	GRCh38
NC_000001.10:g.5927130C>T , CM000663.1:g.5927130C>T	GRCh37
NC_000001.9:g.5849717C>T	NCBI36
NG_011724.2:g.130402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3518G>A MANE Select	ENSP00000367398.4:p.Arg1173His
ENST00000378156.8:c.3518G>A	ENSP00000367398.4:p.Arg1173His
ENST00000378161.5:n.682G>A
ENST00000378169.7:c.*2419G>A	ENSP00000367411.3:n.*2419G>A
ENST00000460696.1:n.583G>A
ENST00000478423.6:n.3250G>A
ENST00000489180.6:c.*1329G>A	ENSP00000423747.1:n.*1329G>A
NM_001291593.1:c.1979G>A	NP_001278522.1:p.Arg660His
NM_001291594.1:c.1982G>A	NP_001278523.1:p.Arg661His
NM_015102.4:c.3518G>A	NP_055917.1:p.Arg1173His
NR_111987.1:n.4333G>A
XM_006710563.2:c.3518G>A	XP_006710626.1:p.Arg1173His
XM_006710565.2:c.3518G>A	XP_006710628.1:p.Arg1173His
XM_011541213.1:c.3515G>A	XP_011539515.1:p.Arg1172His
XM_011541214.1:c.3476G>A	XP_011539516.1:p.Arg1159His
XM_011541215.1:c.3407G>A	XP_011539517.1:p.Arg1136His
XM_011541216.1:c.3518G>A	XP_011539518.1:p.Arg1173His
XM_011541217.1:c.3518G>A	XP_011539519.1:p.Arg1173His
XM_011541218.1:c.3518G>A	XP_011539520.1:p.Arg1173His
XM_011541219.1:c.3464G>A	XP_011539521.1:p.Arg1155His
XM_011541220.1:c.3518G>A	XP_011539522.1:p.Arg1173His
XR_946604.1:n.3369G>A
XM_006710563.3:c.3518G>A	XP_006710626.1:p.Arg1173His
XM_011541216.2:c.3518G>A	XP_011539518.1:p.Arg1173His
XM_011541217.2:c.3518G>A	XP_011539519.1:p.Arg1173His
XM_011541218.2:c.3518G>A	XP_011539520.1:p.Arg1173His
XM_017000996.1:c.3473G>A	XP_016856485.1:p.Arg1158His
XM_017000997.1:c.3518G>A	XP_016856486.1:p.Arg1173His
XM_017000998.1:c.3518G>A	XP_016856487.1:p.Arg1173His
XM_017000999.1:c.2990G>A	XP_016856488.1:p.Arg997His
XM_017001000.2:c.2990G>A	XP_016856489.1:p.Arg997His
XM_017001001.1:c.2720G>A	XP_016856490.1:p.Arg907His
XM_017001003.1:c.1979G>A	XP_016856492.1:p.Arg660His
XR_001737114.1:n.3556G>A
XR_001737115.1:n.3369G>A
NM_015102.5:c.3518G>A MANE Select	NP_055917.1:p.Arg1173His
NM_001291593.2:c.1979G>A	NP_001278522.1:p.Arg660His
NM_001291594.2:c.1982G>A	NP_001278523.1:p.Arg661His
NR_111987.2:n.4285G>A