Canonical Allele Identifier: CA415787041
Gene: NPHP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.5924070C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864010C>A , CM000663.2:g.5864010C>A GRCh38
NC_000001.10:g.5924070C>A , CM000663.1:g.5924070C>A GRCh37
NC_000001.9:g.5846657C>A NCBI36
NG_011724.2:g.133462G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4020G>T MANE Select ENSP00000367398.4:p.Ala1340=
ENST00000378156.8:c.4020G>T ENSP00000367398.4:p.Ala1340=
ENST00000378161.5:n.3171G>T
ENST00000378169.7:c.*2921G>T ENSP00000367411.3:n.*2921G>T
ENST00000460696.1:n.2768G>T
ENST00000478423.6:n.3752G>T
ENST00000489180.6:c.*1831G>T ENSP00000423747.1:n.*1831G>T
NM_001291593.1:c.2481G>T NP_001278522.1:p.Ala827=
NM_001291594.1:c.2484G>T NP_001278523.1:p.Ala828=
NM_015102.4:c.4020G>T NP_055917.1:p.Ala1340=
NR_111987.1:n.4835G>T
XM_006710563.2:c.4020G>T XP_006710626.1:p.Ala1340=
XM_006710565.2:c.4020G>T XP_006710628.1:p.Ala1340=
XM_011541213.1:c.4017G>T XP_011539515.1:p.Ala1339=
XM_011541214.1:c.3978G>T XP_011539516.1:p.Ala1326=
XM_011541215.1:c.3909G>T XP_011539517.1:p.Ala1303=
XM_011541216.1:c.4020G>T XP_011539518.1:p.Ala1340=
XM_011541217.1:c.4020G>T XP_011539519.1:p.Ala1340=
XM_011541218.1:c.4020G>T XP_011539520.1:p.Ala1340=
XM_011541219.1:c.3966G>T XP_011539521.1:p.Ala1322=
XM_006710563.3:c.4020G>T XP_006710626.1:p.Ala1340=
XM_011541216.2:c.4020G>T XP_011539518.1:p.Ala1340=
XM_011541217.2:c.4020G>T XP_011539519.1:p.Ala1340=
XM_011541218.2:c.4020G>T XP_011539520.1:p.Ala1340=
XM_017000996.1:c.3975G>T XP_016856485.1:p.Ala1325=
XM_017000997.1:c.4020G>T XP_016856486.1:p.Ala1340=
XM_017000999.1:c.3492G>T XP_016856488.1:p.Ala1164=
XM_017001000.2:c.3492G>T XP_016856489.1:p.Ala1164=
XM_017001001.1:c.3222G>T XP_016856490.1:p.Ala1074=
XM_017001003.1:c.2481G>T XP_016856492.1:p.Ala827=
XR_001737114.1:n.3886G>T
XR_001737115.1:n.3871G>T
NM_015102.5:c.4020G>T MANE Select NP_055917.1:p.Ala1340=
NM_001291593.2:c.2481G>T NP_001278522.1:p.Ala827=
NM_001291594.2:c.2484G>T NP_001278523.1:p.Ala828=
NR_111987.2:n.4787G>T