Canonical Allele Identifier: CA415790555

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5947464A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887404A>T , CM000663.2:g.5887404A>T	GRCh38
NC_000001.10:g.5947464A>T , CM000663.1:g.5947464A>T	GRCh37
NC_000001.9:g.5870051A>T	NCBI36
NG_011724.2:g.110068T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.2367T>A MANE Select	ENSP00000367398.4:p.Thr789=
ENST00000378156.8:c.2367T>A	ENSP00000367398.4:p.Thr789=
ENST00000378169.7:c.*1268T>A	ENSP00000367411.3:n.*1268T>A
ENST00000466897.1:c.596T>A
ENST00000478423.6:n.2099T>A
ENST00000489180.6:c.2364T>A	ENSP00000423747.1:p.Thr788=
ENST00000622020.4:c.2364T>A	ENSP00000481831.2:p.Thr788=
NM_001291593.1:c.828T>A	NP_001278522.1:p.Thr276=
NM_001291594.1:c.831T>A	NP_001278523.1:p.Thr277=
NM_015102.4:c.2367T>A	NP_055917.1:p.Thr789=
NR_111987.1:n.2632T>A
XM_006710563.2:c.2367T>A	XP_006710626.1:p.Thr789=
XM_006710565.2:c.2367T>A	XP_006710628.1:p.Thr789=
XM_011541213.1:c.2364T>A	XP_011539515.1:p.Thr788=
XM_011541214.1:c.2367T>A	XP_011539516.1:p.Thr789=
XM_011541215.1:c.2256T>A	XP_011539517.1:p.Thr752=
XM_011541216.1:c.2367T>A	XP_011539518.1:p.Thr789=
XM_011541217.1:c.2367T>A	XP_011539519.1:p.Thr789=
XM_011541218.1:c.2367T>A	XP_011539520.1:p.Thr789=
XM_011541219.1:c.2313T>A	XP_011539521.1:p.Thr771=
XM_011541220.1:c.2367T>A	XP_011539522.1:p.Thr789=
XR_946604.1:n.2405T>A
XR_946605.1:n.2244T>A
XM_006710563.3:c.2367T>A	XP_006710626.1:p.Thr789=
XM_011541216.2:c.2367T>A	XP_011539518.1:p.Thr789=
XM_011541217.2:c.2367T>A	XP_011539519.1:p.Thr789=
XM_011541218.2:c.2367T>A	XP_011539520.1:p.Thr789=
XM_017000996.1:c.2364T>A	XP_016856485.1:p.Thr788=
XM_017000997.1:c.2367T>A	XP_016856486.1:p.Thr789=
XM_017000998.1:c.2367T>A	XP_016856487.1:p.Thr789=
XM_017000999.1:c.1839T>A	XP_016856488.1:p.Thr613=
XM_017001000.2:c.1839T>A	XP_016856489.1:p.Thr613=
XM_017001001.1:c.1569T>A	XP_016856490.1:p.Thr523=
XM_017001002.1:c.2367T>A	XP_016856491.1:p.Thr789=
XM_017001003.1:c.828T>A	XP_016856492.1:p.Thr276=
XR_001737114.1:n.2405T>A
XR_001737115.1:n.2405T>A
NM_015102.5:c.2367T>A MANE Select	NP_055917.1:p.Thr789=
NM_001291593.2:c.828T>A	NP_001278522.1:p.Thr276=
NM_001291594.2:c.831T>A	NP_001278523.1:p.Thr277=
NR_111987.2:n.2584T>A