Canonical Allele Identifier: CA338049308
Gene: NPHP4 HGNC NCBI

Linked Data

gnomAD v4: 1-5864029-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864029A>C , CM000663.2:g.5864029A>C GRCh38
NC_000001.10:g.5924089A>C , CM000663.1:g.5924089A>C GRCh37
NC_000001.9:g.5846676A>C NCBI36
NG_011724.2:g.133443T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4001T>G MANE Select ENSP00000367398.4:p.Phe1334Cys
ENST00000378156.8:c.4001T>G ENSP00000367398.4:p.Phe1334Cys
ENST00000378161.5:n.3152T>G
ENST00000378169.7:c.*2902T>G ENSP00000367411.3:n.*2902T>G
ENST00000460696.1:n.2749T>G
ENST00000478423.6:n.3733T>G
ENST00000489180.6:c.*1812T>G ENSP00000423747.1:n.*1812T>G
NM_001291593.1:c.2462T>G NP_001278522.1:p.Phe821Cys
NM_001291594.1:c.2465T>G NP_001278523.1:p.Phe822Cys
NM_015102.4:c.4001T>G NP_055917.1:p.Phe1334Cys
NR_111987.1:n.4816T>G
XM_006710563.2:c.4001T>G XP_006710626.1:p.Phe1334Cys
XM_006710565.2:c.4001T>G XP_006710628.1:p.Phe1334Cys
XM_011541213.1:c.3998T>G XP_011539515.1:p.Phe1333Cys
XM_011541214.1:c.3959T>G XP_011539516.1:p.Phe1320Cys
XM_011541215.1:c.3890T>G XP_011539517.1:p.Phe1297Cys
XM_011541216.1:c.4001T>G XP_011539518.1:p.Phe1334Cys
XM_011541217.1:c.4001T>G XP_011539519.1:p.Phe1334Cys
XM_011541218.1:c.4001T>G XP_011539520.1:p.Phe1334Cys
XM_011541219.1:c.3947T>G XP_011539521.1:p.Phe1316Cys
XM_006710563.3:c.4001T>G XP_006710626.1:p.Phe1334Cys
XM_011541216.2:c.4001T>G XP_011539518.1:p.Phe1334Cys
XM_011541217.2:c.4001T>G XP_011539519.1:p.Phe1334Cys
XM_011541218.2:c.4001T>G XP_011539520.1:p.Phe1334Cys
XM_017000996.1:c.3956T>G XP_016856485.1:p.Phe1319Cys
XM_017000997.1:c.4001T>G XP_016856486.1:p.Phe1334Cys
XM_017000999.1:c.3473T>G XP_016856488.1:p.Phe1158Cys
XM_017001000.2:c.3473T>G XP_016856489.1:p.Phe1158Cys
XM_017001001.1:c.3203T>G XP_016856490.1:p.Phe1068Cys
XM_017001003.1:c.2462T>G XP_016856492.1:p.Phe821Cys
XR_001737114.1:n.3867T>G
XR_001737115.1:n.3852T>G
NM_015102.5:c.4001T>G MANE Select NP_055917.1:p.Phe1334Cys
NM_001291593.2:c.2462T>G NP_001278522.1:p.Phe821Cys
NM_001291594.2:c.2465T>G NP_001278523.1:p.Phe822Cys
NR_111987.2:n.4768T>G