Canonical Allele Identifier: CA415787031
Gene: NPHP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.5924052G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863992G>C , CM000663.2:g.5863992G>C GRCh38
NC_000001.10:g.5924052G>C , CM000663.1:g.5924052G>C GRCh37
NC_000001.9:g.5846639G>C NCBI36
NG_011724.2:g.133480C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4038C>G MANE Select ENSP00000367398.4:p.Val1346=
ENST00000378156.8:c.4038C>G ENSP00000367398.4:p.Val1346=
ENST00000378161.5:n.3189C>G
ENST00000378169.7:c.*2939C>G ENSP00000367411.3:n.*2939C>G
ENST00000460696.1:n.2786C>G
ENST00000478423.6:n.3770C>G
ENST00000489180.6:c.*1849C>G ENSP00000423747.1:n.*1849C>G
NM_001291593.1:c.2499C>G NP_001278522.1:p.Val833=
NM_001291594.1:c.2502C>G NP_001278523.1:p.Val834=
NM_015102.4:c.4038C>G NP_055917.1:p.Val1346=
NR_111987.1:n.4853C>G
XM_006710563.2:c.4038C>G XP_006710626.1:p.Val1346=
XM_006710565.2:c.4038C>G XP_006710628.1:p.Val1346=
XM_011541213.1:c.4035C>G XP_011539515.1:p.Val1345=
XM_011541214.1:c.3996C>G XP_011539516.1:p.Val1332=
XM_011541215.1:c.3927C>G XP_011539517.1:p.Val1309=
XM_011541216.1:c.4038C>G XP_011539518.1:p.Val1346=
XM_011541217.1:c.4038C>G XP_011539519.1:p.Val1346=
XM_011541218.1:c.4038C>G XP_011539520.1:p.Val1346=
XM_011541219.1:c.3984C>G XP_011539521.1:p.Val1328=
XM_006710563.3:c.4038C>G XP_006710626.1:p.Val1346=
XM_011541216.2:c.4038C>G XP_011539518.1:p.Val1346=
XM_011541217.2:c.4038C>G XP_011539519.1:p.Val1346=
XM_011541218.2:c.4038C>G XP_011539520.1:p.Val1346=
XM_017000996.1:c.3993C>G XP_016856485.1:p.Val1331=
XM_017000997.1:c.4038C>G XP_016856486.1:p.Val1346=
XM_017000999.1:c.3510C>G XP_016856488.1:p.Val1170=
XM_017001000.2:c.3510C>G XP_016856489.1:p.Val1170=
XM_017001001.1:c.3240C>G XP_016856490.1:p.Val1080=
XM_017001003.1:c.2499C>G XP_016856492.1:p.Val833=
XR_001737114.1:n.3904C>G
XR_001737115.1:n.3889C>G
NM_015102.5:c.4038C>G MANE Select NP_055917.1:p.Val1346=
NM_001291593.2:c.2499C>G NP_001278522.1:p.Val833=
NM_001291594.2:c.2502C>G NP_001278523.1:p.Val834=
NR_111987.2:n.4805C>G