Canonical Allele Identifier: CA17135786
Community Standard Title: NM_015102.5(NPHP4):c.3227T>C (p.Val1076Ala)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5874475A>G , CM000663.2:g.5874475A>G GRCh38
NC_000001.10:g.5934535A>G , CM000663.1:g.5934535A>G GRCh37
NC_000001.9:g.5857122A>G NCBI36
NG_011724.2:g.122997T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.3227T>C MANE Select NP_055917.1:p.Val1076Ala
ENST00000378156.9:c.3227T>C MANE Select ENSP00000367398.4:p.Val1076Ala
NM_001291593.1:c.1688T>C NP_001278522.1:p.Val563Ala
NM_001291593.2:c.1688T>C NP_001278522.1:p.Val563Ala
NM_001291594.1:c.1691T>C NP_001278523.1:p.Val564Ala
NM_001291594.2:c.1691T>C NP_001278523.1:p.Val564Ala
NM_015102.4:c.3227T>C NP_055917.1:p.Val1076Ala
NR_111987.1:n.4042T>C
NR_111987.2:n.3994T>C
ENST00000378156.8:c.3227T>C ENSP00000367398.4:p.Val1076Ala
ENST00000378169.7:c.*2128T>C ENSP00000367411.3:n.*2128T>C
ENST00000478423.6:n.2959T>C
ENST00000489180.6:c.*1038T>C ENSP00000423747.1:n.*1038T>C
XM_006710563.2:c.3227T>C XP_006710626.1:p.Val1076Ala
XM_006710563.3:c.3227T>C XP_006710626.1:p.Val1076Ala
XM_006710565.2:c.3227T>C XP_006710628.1:p.Val1076Ala
XM_011541213.1:c.3224T>C XP_011539515.1:p.Val1075Ala
XM_011541214.1:c.3185T>C XP_011539516.1:p.Val1062Ala
XM_011541215.1:c.3116T>C XP_011539517.1:p.Val1039Ala
XM_011541216.1:c.3227T>C XP_011539518.1:p.Val1076Ala
XM_011541216.2:c.3227T>C XP_011539518.1:p.Val1076Ala
XM_011541217.1:c.3227T>C XP_011539519.1:p.Val1076Ala
XM_011541217.2:c.3227T>C XP_011539519.1:p.Val1076Ala
XM_011541218.1:c.3227T>C XP_011539520.1:p.Val1076Ala
XM_011541218.2:c.3227T>C XP_011539520.1:p.Val1076Ala
XM_011541219.1:c.3173T>C XP_011539521.1:p.Val1058Ala
XM_011541220.1:c.3227T>C XP_011539522.1:p.Val1076Ala
XM_017000996.1:c.3182T>C XP_016856485.1:p.Val1061Ala
XM_017000997.1:c.3227T>C XP_016856486.1:p.Val1076Ala
XM_017000998.1:c.3227T>C XP_016856487.1:p.Val1076Ala
XM_017000999.1:c.2699T>C XP_016856488.1:p.Val900Ala
XM_017001000.2:c.2699T>C XP_016856489.1:p.Val900Ala
XM_017001001.1:c.2429T>C XP_016856490.1:p.Val810Ala
XM_017001003.1:c.1688T>C XP_016856492.1:p.Val563Ala
XR_001737114.1:n.3265T>C
XR_001737115.1:n.3082+399T>C
XR_946604.1:n.3082+399T>C