Canonical Allele Identifier: CA338049315

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924090A>T (hg19) ; chr1:g.5864030A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864030A>T , CM000663.2:g.5864030A>T	GRCh38
NC_000001.10:g.5924090A>T , CM000663.1:g.5924090A>T	GRCh37
NC_000001.9:g.5846677A>T	NCBI36
NG_011724.2:g.133442T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4000T>A MANE Select	ENSP00000367398.4:p.Phe1334Ile
ENST00000378156.8:c.4000T>A	ENSP00000367398.4:p.Phe1334Ile
ENST00000378161.5:n.3151T>A
ENST00000378169.7:c.*2901T>A	ENSP00000367411.3:n.*2901T>A
ENST00000460696.1:n.2748T>A
ENST00000478423.6:n.3732T>A
ENST00000489180.6:c.*1811T>A	ENSP00000423747.1:n.*1811T>A
NM_001291593.1:c.2461T>A	NP_001278522.1:p.Phe821Ile
NM_001291594.1:c.2464T>A	NP_001278523.1:p.Phe822Ile
NM_015102.4:c.4000T>A	NP_055917.1:p.Phe1334Ile
NR_111987.1:n.4815T>A
XM_006710563.2:c.4000T>A	XP_006710626.1:p.Phe1334Ile
XM_006710565.2:c.4000T>A	XP_006710628.1:p.Phe1334Ile
XM_011541213.1:c.3997T>A	XP_011539515.1:p.Phe1333Ile
XM_011541214.1:c.3958T>A	XP_011539516.1:p.Phe1320Ile
XM_011541215.1:c.3889T>A	XP_011539517.1:p.Phe1297Ile
XM_011541216.1:c.4000T>A	XP_011539518.1:p.Phe1334Ile
XM_011541217.1:c.4000T>A	XP_011539519.1:p.Phe1334Ile
XM_011541218.1:c.4000T>A	XP_011539520.1:p.Phe1334Ile
XM_011541219.1:c.3946T>A	XP_011539521.1:p.Phe1316Ile
XM_006710563.3:c.4000T>A	XP_006710626.1:p.Phe1334Ile
XM_011541216.2:c.4000T>A	XP_011539518.1:p.Phe1334Ile
XM_011541217.2:c.4000T>A	XP_011539519.1:p.Phe1334Ile
XM_011541218.2:c.4000T>A	XP_011539520.1:p.Phe1334Ile
XM_017000996.1:c.3955T>A	XP_016856485.1:p.Phe1319Ile
XM_017000997.1:c.4000T>A	XP_016856486.1:p.Phe1334Ile
XM_017000999.1:c.3472T>A	XP_016856488.1:p.Phe1158Ile
XM_017001000.2:c.3472T>A	XP_016856489.1:p.Phe1158Ile
XM_017001001.1:c.3202T>A	XP_016856490.1:p.Phe1068Ile
XM_017001003.1:c.2461T>A	XP_016856492.1:p.Phe821Ile
XR_001737114.1:n.3866T>A
XR_001737115.1:n.3851T>A
NM_015102.5:c.4000T>A MANE Select	NP_055917.1:p.Phe1334Ile
NM_001291593.2:c.2461T>A	NP_001278522.1:p.Phe821Ile
NM_001291594.2:c.2464T>A	NP_001278523.1:p.Phe822Ile
NR_111987.2:n.4767T>A