Canonical Allele Identifier: CA338049303
Gene: NPHP4 HGNC NCBI

Linked Data

dbSNP Id: rs1640919065
gnomAD v3: 1-5864028-A-C
gnomAD v4: 1-5864028-A-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4002T>G MANE Select ENSP00000367398.4:p.Phe1334Leu
ENST00000378156.8:c.4002T>G ENSP00000367398.4:p.Phe1334Leu
ENST00000378161.5:n.3153T>G
ENST00000378169.7:c.*2903T>G ENSP00000367411.3:n.*2903T>G
ENST00000460696.1:n.2750T>G
ENST00000478423.6:n.3734T>G
ENST00000489180.6:c.*1813T>G ENSP00000423747.1:n.*1813T>G
NM_001291593.1:c.2463T>G NP_001278522.1:p.Phe821Leu
NM_001291594.1:c.2466T>G NP_001278523.1:p.Phe822Leu
NM_015102.4:c.4002T>G NP_055917.1:p.Phe1334Leu
NR_111987.1:n.4817T>G
XM_006710563.2:c.4002T>G XP_006710626.1:p.Phe1334Leu
XM_006710565.2:c.4002T>G XP_006710628.1:p.Phe1334Leu
XM_011541213.1:c.3999T>G XP_011539515.1:p.Phe1333Leu
XM_011541214.1:c.3960T>G XP_011539516.1:p.Phe1320Leu
XM_011541215.1:c.3891T>G XP_011539517.1:p.Phe1297Leu
XM_011541216.1:c.4002T>G XP_011539518.1:p.Phe1334Leu
XM_011541217.1:c.4002T>G XP_011539519.1:p.Phe1334Leu
XM_011541218.1:c.4002T>G XP_011539520.1:p.Phe1334Leu
XM_011541219.1:c.3948T>G XP_011539521.1:p.Phe1316Leu
XM_006710563.3:c.4002T>G XP_006710626.1:p.Phe1334Leu
XM_011541216.2:c.4002T>G XP_011539518.1:p.Phe1334Leu
XM_011541217.2:c.4002T>G XP_011539519.1:p.Phe1334Leu
XM_011541218.2:c.4002T>G XP_011539520.1:p.Phe1334Leu
XM_017000996.1:c.3957T>G XP_016856485.1:p.Phe1319Leu
XM_017000997.1:c.4002T>G XP_016856486.1:p.Phe1334Leu
XM_017000999.1:c.3474T>G XP_016856488.1:p.Phe1158Leu
XM_017001000.2:c.3474T>G XP_016856489.1:p.Phe1158Leu
XM_017001001.1:c.3204T>G XP_016856490.1:p.Phe1068Leu
XM_017001003.1:c.2463T>G XP_016856492.1:p.Phe821Leu
XR_001737114.1:n.3868T>G
XR_001737115.1:n.3853T>G
NM_015102.5:c.4002T>G MANE Select NP_055917.1:p.Phe1334Leu
NM_001291593.2:c.2463T>G NP_001278522.1:p.Phe821Leu
NM_001291594.2:c.2466T>G NP_001278523.1:p.Phe822Leu
NR_111987.2:n.4769T>G