Canonical Allele Identifier: CA415787051
Gene: NPHP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.5924088A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864028A>G , CM000663.2:g.5864028A>G GRCh38
NC_000001.10:g.5924088A>G , CM000663.1:g.5924088A>G GRCh37
NC_000001.9:g.5846675A>G NCBI36
NG_011724.2:g.133444T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4002T>C MANE Select ENSP00000367398.4:p.Phe1334=
ENST00000378156.8:c.4002T>C ENSP00000367398.4:p.Phe1334=
ENST00000378161.5:n.3153T>C
ENST00000378169.7:c.*2903T>C ENSP00000367411.3:n.*2903T>C
ENST00000460696.1:n.2750T>C
ENST00000478423.6:n.3734T>C
ENST00000489180.6:c.*1813T>C ENSP00000423747.1:n.*1813T>C
NM_001291593.1:c.2463T>C NP_001278522.1:p.Phe821=
NM_001291594.1:c.2466T>C NP_001278523.1:p.Phe822=
NM_015102.4:c.4002T>C NP_055917.1:p.Phe1334=
NR_111987.1:n.4817T>C
XM_006710563.2:c.4002T>C XP_006710626.1:p.Phe1334=
XM_006710565.2:c.4002T>C XP_006710628.1:p.Phe1334=
XM_011541213.1:c.3999T>C XP_011539515.1:p.Phe1333=
XM_011541214.1:c.3960T>C XP_011539516.1:p.Phe1320=
XM_011541215.1:c.3891T>C XP_011539517.1:p.Phe1297=
XM_011541216.1:c.4002T>C XP_011539518.1:p.Phe1334=
XM_011541217.1:c.4002T>C XP_011539519.1:p.Phe1334=
XM_011541218.1:c.4002T>C XP_011539520.1:p.Phe1334=
XM_011541219.1:c.3948T>C XP_011539521.1:p.Phe1316=
XM_006710563.3:c.4002T>C XP_006710626.1:p.Phe1334=
XM_011541216.2:c.4002T>C XP_011539518.1:p.Phe1334=
XM_011541217.2:c.4002T>C XP_011539519.1:p.Phe1334=
XM_011541218.2:c.4002T>C XP_011539520.1:p.Phe1334=
XM_017000996.1:c.3957T>C XP_016856485.1:p.Phe1319=
XM_017000997.1:c.4002T>C XP_016856486.1:p.Phe1334=
XM_017000999.1:c.3474T>C XP_016856488.1:p.Phe1158=
XM_017001000.2:c.3474T>C XP_016856489.1:p.Phe1158=
XM_017001001.1:c.3204T>C XP_016856490.1:p.Phe1068=
XM_017001003.1:c.2463T>C XP_016856492.1:p.Phe821=
XR_001737114.1:n.3868T>C
XR_001737115.1:n.3853T>C
NM_015102.5:c.4002T>C MANE Select NP_055917.1:p.Phe1334=
NM_001291593.2:c.2463T>C NP_001278522.1:p.Phe821=
NM_001291594.2:c.2466T>C NP_001278523.1:p.Phe822=
NR_111987.2:n.4769T>C