Canonical Allele Identifier: CA553370

Gene: NPHP4

Linked Data

• dbSNP Id: rs770113955
• ExAC: 1:5924040 G / T
• gnomAD v2: 1-5924040-G-T
• gnomAD v3: 1-5863980-G-T
• gnomAD v4: 1-5863980-G-T
• MyVariant Identifiers: chr1:g.5924040G>T (hg19) ; chr1:g.5863980G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863980G>T , CM000663.2:g.5863980G>T	GRCh38
NC_000001.10:g.5924040G>T , CM000663.1:g.5924040G>T	GRCh37
NC_000001.9:g.5846627G>T	NCBI36
NG_011724.2:g.133492C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4050C>A MANE Select	ENSP00000367398.4:p.Ile1350=
ENST00000378156.8:c.4050C>A	ENSP00000367398.4:p.Ile1350=
ENST00000378161.5:n.3201C>A
ENST00000378169.7:c.*2951C>A	ENSP00000367411.3:n.*2951C>A
ENST00000460696.1:n.2798C>A
ENST00000478423.6:n.3782C>A
ENST00000489180.6:c.*1861C>A	ENSP00000423747.1:n.*1861C>A
NM_001291593.1:c.2511C>A	NP_001278522.1:p.Ile837=
NM_001291594.1:c.2514C>A	NP_001278523.1:p.Ile838=
NM_015102.4:c.4050C>A	NP_055917.1:p.Ile1350=
NR_111987.1:n.4865C>A
XM_006710563.2:c.4050C>A	XP_006710626.1:p.Ile1350=
XM_006710565.2:c.4050C>A	XP_006710628.1:p.Ile1350=
XM_011541213.1:c.4047C>A	XP_011539515.1:p.Ile1349=
XM_011541214.1:c.4008C>A	XP_011539516.1:p.Ile1336=
XM_011541215.1:c.3939C>A	XP_011539517.1:p.Ile1313=
XM_011541216.1:c.4050C>A	XP_011539518.1:p.Ile1350=
XM_011541217.1:c.4050C>A	XP_011539519.1:p.Ile1350=
XM_011541218.1:c.4050C>A	XP_011539520.1:p.Ile1350=
XM_011541219.1:c.3996C>A	XP_011539521.1:p.Ile1332=
XM_006710563.3:c.4050C>A	XP_006710626.1:p.Ile1350=
XM_011541216.2:c.4050C>A	XP_011539518.1:p.Ile1350=
XM_011541217.2:c.4050C>A	XP_011539519.1:p.Ile1350=
XM_011541218.2:c.4050C>A	XP_011539520.1:p.Ile1350=
XM_017000996.1:c.4005C>A	XP_016856485.1:p.Ile1335=
XM_017000997.1:c.4050C>A	XP_016856486.1:p.Ile1350=
XM_017000999.1:c.3522C>A	XP_016856488.1:p.Ile1174=
XM_017001000.2:c.3522C>A	XP_016856489.1:p.Ile1174=
XM_017001001.1:c.3252C>A	XP_016856490.1:p.Ile1084=
XM_017001003.1:c.2511C>A	XP_016856492.1:p.Ile837=
XR_001737114.1:n.3916C>A
XR_001737115.1:n.3901C>A
NM_015102.5:c.4050C>A MANE Select	NP_055917.1:p.Ile1350=
NM_001291593.2:c.2511C>A	NP_001278522.1:p.Ile837=
NM_001291594.2:c.2514C>A	NP_001278523.1:p.Ile838=
NR_111987.2:n.4817C>A