Canonical Allele Identifier: CA338047275

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923349A>T (hg19) ; chr1:g.5863289A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863289A>T , CM000663.2:g.5863289A>T	GRCh38
NC_000001.10:g.5923349A>T , CM000663.1:g.5923349A>T	GRCh37
NC_000001.9:g.5845936A>T	NCBI36
NG_011724.2:g.134183T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4257T>A MANE Select	ENSP00000367398.4:p.Phe1419Leu
ENST00000378156.8:c.4257T>A	ENSP00000367398.4:p.Phe1419Leu
ENST00000378161.5:n.3892T>A
ENST00000378169.7:c.*3158T>A	ENSP00000367411.3:n.*3158T>A
ENST00000460696.1:n.3489T>A
ENST00000478423.6:n.3989T>A
ENST00000489180.6:c.*2068T>A	ENSP00000423747.1:n.*2068T>A
NM_001291593.1:c.2718T>A	NP_001278522.1:p.Phe906Leu
NM_001291594.1:c.2721T>A	NP_001278523.1:p.Phe907Leu
NM_015102.4:c.4257T>A	NP_055917.1:p.Phe1419Leu
NR_111987.1:n.5072T>A
XM_006710563.2:c.4257T>A	XP_006710626.1:p.Phe1419Leu
XM_006710565.2:c.4257T>A	XP_006710628.1:p.Phe1419Leu
XM_011541213.1:c.4254T>A	XP_011539515.1:p.Phe1418Leu
XM_011541214.1:c.4215T>A	XP_011539516.1:p.Phe1405Leu
XM_011541215.1:c.4146T>A	XP_011539517.1:p.Phe1382Leu
XM_011541216.1:c.4257T>A	XP_011539518.1:p.Phe1419Leu
XM_011541217.1:c.4257T>A	XP_011539519.1:p.Phe1419Leu
XM_011541218.1:c.4257T>A	XP_011539520.1:p.Phe1419Leu
XM_011541219.1:c.4203T>A	XP_011539521.1:p.Phe1401Leu
XM_006710563.3:c.4257T>A	XP_006710626.1:p.Phe1419Leu
XM_011541216.2:c.4257T>A	XP_011539518.1:p.Phe1419Leu
XM_011541217.2:c.4257T>A	XP_011539519.1:p.Phe1419Leu
XM_011541218.2:c.4257T>A	XP_011539520.1:p.Phe1419Leu
XM_017000996.1:c.4212T>A	XP_016856485.1:p.Phe1404Leu
XM_017000997.1:c.4257T>A	XP_016856486.1:p.Phe1419Leu
XM_017000999.1:c.3729T>A	XP_016856488.1:p.Phe1243Leu
XM_017001000.2:c.3729T>A	XP_016856489.1:p.Phe1243Leu
XM_017001001.1:c.3459T>A	XP_016856490.1:p.Phe1153Leu
XM_017001003.1:c.2718T>A	XP_016856492.1:p.Phe906Leu
XR_001737114.1:n.4123T>A
XR_001737115.1:n.4108T>A
NM_015102.5:c.4257T>A MANE Select	NP_055917.1:p.Phe1419Leu
NM_001291593.2:c.2718T>A	NP_001278522.1:p.Phe906Leu
NM_001291594.2:c.2721T>A	NP_001278523.1:p.Phe907Leu
NR_111987.2:n.5024T>A