Canonical Allele Identifier: CA338058760

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5887406-T-A
• MyVariant Identifiers: chr1:g.5947466T>A (hg19) ; chr1:g.5887406T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887406T>A , CM000663.2:g.5887406T>A	GRCh38
NC_000001.10:g.5947466T>A , CM000663.1:g.5947466T>A	GRCh37
NC_000001.9:g.5870053T>A	NCBI36
NG_011724.2:g.110066A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.2365A>T MANE Select	ENSP00000367398.4:p.Thr789Ser
ENST00000378156.8:c.2365A>T	ENSP00000367398.4:p.Thr789Ser
ENST00000378169.7:c.*1266A>T	ENSP00000367411.3:n.*1266A>T
ENST00000466897.1:c.594A>T
ENST00000478423.6:n.2097A>T
ENST00000489180.6:c.2362A>T	ENSP00000423747.1:p.Thr788Ser
ENST00000622020.4:c.2362A>T	ENSP00000481831.2:p.Thr788Ser
NM_001291593.1:c.826A>T	NP_001278522.1:p.Thr276Ser
NM_001291594.1:c.829A>T	NP_001278523.1:p.Thr277Ser
NM_015102.4:c.2365A>T	NP_055917.1:p.Thr789Ser
NR_111987.1:n.2630A>T
XM_006710563.2:c.2365A>T	XP_006710626.1:p.Thr789Ser
XM_006710565.2:c.2365A>T	XP_006710628.1:p.Thr789Ser
XM_011541213.1:c.2362A>T	XP_011539515.1:p.Thr788Ser
XM_011541214.1:c.2365A>T	XP_011539516.1:p.Thr789Ser
XM_011541215.1:c.2254A>T	XP_011539517.1:p.Thr752Ser
XM_011541216.1:c.2365A>T	XP_011539518.1:p.Thr789Ser
XM_011541217.1:c.2365A>T	XP_011539519.1:p.Thr789Ser
XM_011541218.1:c.2365A>T	XP_011539520.1:p.Thr789Ser
XM_011541219.1:c.2311A>T	XP_011539521.1:p.Thr771Ser
XM_011541220.1:c.2365A>T	XP_011539522.1:p.Thr789Ser
XR_946604.1:n.2403A>T
XR_946605.1:n.2242A>T
XM_006710563.3:c.2365A>T	XP_006710626.1:p.Thr789Ser
XM_011541216.2:c.2365A>T	XP_011539518.1:p.Thr789Ser
XM_011541217.2:c.2365A>T	XP_011539519.1:p.Thr789Ser
XM_011541218.2:c.2365A>T	XP_011539520.1:p.Thr789Ser
XM_017000996.1:c.2362A>T	XP_016856485.1:p.Thr788Ser
XM_017000997.1:c.2365A>T	XP_016856486.1:p.Thr789Ser
XM_017000998.1:c.2365A>T	XP_016856487.1:p.Thr789Ser
XM_017000999.1:c.1837A>T	XP_016856488.1:p.Thr613Ser
XM_017001000.2:c.1837A>T	XP_016856489.1:p.Thr613Ser
XM_017001001.1:c.1567A>T	XP_016856490.1:p.Thr523Ser
XM_017001002.1:c.2365A>T	XP_016856491.1:p.Thr789Ser
XM_017001003.1:c.826A>T	XP_016856492.1:p.Thr276Ser
XR_001737114.1:n.2403A>T
XR_001737115.1:n.2403A>T
NM_015102.5:c.2365A>T MANE Select	NP_055917.1:p.Thr789Ser
NM_001291593.2:c.826A>T	NP_001278522.1:p.Thr276Ser
NM_001291594.2:c.829A>T	NP_001278523.1:p.Thr277Ser
NR_111987.2:n.2582A>T