Canonical Allele Identifier: CA338049287

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924086T>A (hg19) ; chr1:g.5864026T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864026T>A , CM000663.2:g.5864026T>A	GRCh38
NC_000001.10:g.5924086T>A , CM000663.1:g.5924086T>A	GRCh37
NC_000001.9:g.5846673T>A	NCBI36
NG_011724.2:g.133446A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4004A>T MANE Select	ENSP00000367398.4:p.Glu1335Val
ENST00000378156.8:c.4004A>T	ENSP00000367398.4:p.Glu1335Val
ENST00000378161.5:n.3155A>T
ENST00000378169.7:c.*2905A>T	ENSP00000367411.3:n.*2905A>T
ENST00000460696.1:n.2752A>T
ENST00000478423.6:n.3736A>T
ENST00000489180.6:c.*1815A>T	ENSP00000423747.1:n.*1815A>T
NM_001291593.1:c.2465A>T	NP_001278522.1:p.Glu822Val
NM_001291594.1:c.2468A>T	NP_001278523.1:p.Glu823Val
NM_015102.4:c.4004A>T	NP_055917.1:p.Glu1335Val
NR_111987.1:n.4819A>T
XM_006710563.2:c.4004A>T	XP_006710626.1:p.Glu1335Val
XM_006710565.2:c.4004A>T	XP_006710628.1:p.Glu1335Val
XM_011541213.1:c.4001A>T	XP_011539515.1:p.Glu1334Val
XM_011541214.1:c.3962A>T	XP_011539516.1:p.Glu1321Val
XM_011541215.1:c.3893A>T	XP_011539517.1:p.Glu1298Val
XM_011541216.1:c.4004A>T	XP_011539518.1:p.Glu1335Val
XM_011541217.1:c.4004A>T	XP_011539519.1:p.Glu1335Val
XM_011541218.1:c.4004A>T	XP_011539520.1:p.Glu1335Val
XM_011541219.1:c.3950A>T	XP_011539521.1:p.Glu1317Val
XM_006710563.3:c.4004A>T	XP_006710626.1:p.Glu1335Val
XM_011541216.2:c.4004A>T	XP_011539518.1:p.Glu1335Val
XM_011541217.2:c.4004A>T	XP_011539519.1:p.Glu1335Val
XM_011541218.2:c.4004A>T	XP_011539520.1:p.Glu1335Val
XM_017000996.1:c.3959A>T	XP_016856485.1:p.Glu1320Val
XM_017000997.1:c.4004A>T	XP_016856486.1:p.Glu1335Val
XM_017000999.1:c.3476A>T	XP_016856488.1:p.Glu1159Val
XM_017001000.2:c.3476A>T	XP_016856489.1:p.Glu1159Val
XM_017001001.1:c.3206A>T	XP_016856490.1:p.Glu1069Val
XM_017001003.1:c.2465A>T	XP_016856492.1:p.Glu822Val
XR_001737114.1:n.3870A>T
XR_001737115.1:n.3855A>T
NM_015102.5:c.4004A>T MANE Select	NP_055917.1:p.Glu1335Val
NM_001291593.2:c.2465A>T	NP_001278522.1:p.Glu822Val
NM_001291594.2:c.2468A>T	NP_001278523.1:p.Glu823Val
NR_111987.2:n.4771A>T