Canonical Allele Identifier: CA415787007

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924016G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863956G>T , CM000663.2:g.5863956G>T	GRCh38
NC_000001.10:g.5924016G>T , CM000663.1:g.5924016G>T	GRCh37
NC_000001.9:g.5846603G>T	NCBI36
NG_011724.2:g.133516C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4074C>A MANE Select	ENSP00000367398.4:p.Ser1358=
ENST00000378156.8:c.4074C>A	ENSP00000367398.4:p.Ser1358=
ENST00000378161.5:n.3225C>A
ENST00000378169.7:c.*2975C>A	ENSP00000367411.3:n.*2975C>A
ENST00000460696.1:n.2822C>A
ENST00000478423.6:n.3806C>A
ENST00000489180.6:c.*1885C>A	ENSP00000423747.1:n.*1885C>A
NM_001291593.1:c.2535C>A	NP_001278522.1:p.Ser845=
NM_001291594.1:c.2538C>A	NP_001278523.1:p.Ser846=
NM_015102.4:c.4074C>A	NP_055917.1:p.Ser1358=
NR_111987.1:n.4889C>A
XM_006710563.2:c.4074C>A	XP_006710626.1:p.Ser1358=
XM_006710565.2:c.4074C>A	XP_006710628.1:p.Ser1358=
XM_011541213.1:c.4071C>A	XP_011539515.1:p.Ser1357=
XM_011541214.1:c.4032C>A	XP_011539516.1:p.Ser1344=
XM_011541215.1:c.3963C>A	XP_011539517.1:p.Ser1321=
XM_011541216.1:c.4074C>A	XP_011539518.1:p.Ser1358=
XM_011541217.1:c.4074C>A	XP_011539519.1:p.Ser1358=
XM_011541218.1:c.4074C>A	XP_011539520.1:p.Ser1358=
XM_011541219.1:c.4020C>A	XP_011539521.1:p.Ser1340=
XM_006710563.3:c.4074C>A	XP_006710626.1:p.Ser1358=
XM_011541216.2:c.4074C>A	XP_011539518.1:p.Ser1358=
XM_011541217.2:c.4074C>A	XP_011539519.1:p.Ser1358=
XM_011541218.2:c.4074C>A	XP_011539520.1:p.Ser1358=
XM_017000996.1:c.4029C>A	XP_016856485.1:p.Ser1343=
XM_017000997.1:c.4074C>A	XP_016856486.1:p.Ser1358=
XM_017000999.1:c.3546C>A	XP_016856488.1:p.Ser1182=
XM_017001000.2:c.3546C>A	XP_016856489.1:p.Ser1182=
XM_017001001.1:c.3276C>A	XP_016856490.1:p.Ser1092=
XM_017001003.1:c.2535C>A	XP_016856492.1:p.Ser845=
XR_001737114.1:n.3940C>A
XR_001737115.1:n.3925C>A
NM_015102.5:c.4074C>A MANE Select	NP_055917.1:p.Ser1358=
NM_001291593.2:c.2535C>A	NP_001278522.1:p.Ser845=
NM_001291594.2:c.2538C>A	NP_001278523.1:p.Ser846=
NR_111987.2:n.4841C>A