Canonical Allele Identifier: CA338047734
Gene: NPHP4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863367A>C , CM000663.2:g.5863367A>C GRCh38
NC_000001.10:g.5923427A>C , CM000663.1:g.5923427A>C GRCh37
NC_000001.9:g.5846014A>C NCBI36
NG_011724.2:g.134105T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4179T>G MANE Select ENSP00000367398.4:p.Phe1393Leu
ENST00000378156.8:c.4179T>G ENSP00000367398.4:p.Phe1393Leu
ENST00000378161.5:n.3814T>G
ENST00000378169.7:c.*3080T>G ENSP00000367411.3:n.*3080T>G
ENST00000460696.1:n.3411T>G
ENST00000478423.6:n.3911T>G
ENST00000489180.6:c.*1990T>G ENSP00000423747.1:n.*1990T>G
NM_001291593.1:c.2640T>G NP_001278522.1:p.Phe880Leu
NM_001291594.1:c.2643T>G NP_001278523.1:p.Phe881Leu
NM_015102.4:c.4179T>G NP_055917.1:p.Phe1393Leu
NR_111987.1:n.4994T>G
XM_006710563.2:c.4179T>G XP_006710626.1:p.Phe1393Leu
XM_006710565.2:c.4179T>G XP_006710628.1:p.Phe1393Leu
XM_011541213.1:c.4176T>G XP_011539515.1:p.Phe1392Leu
XM_011541214.1:c.4137T>G XP_011539516.1:p.Phe1379Leu
XM_011541215.1:c.4068T>G XP_011539517.1:p.Phe1356Leu
XM_011541216.1:c.4179T>G XP_011539518.1:p.Phe1393Leu
XM_011541217.1:c.4179T>G XP_011539519.1:p.Phe1393Leu
XM_011541218.1:c.4179T>G XP_011539520.1:p.Phe1393Leu
XM_011541219.1:c.4125T>G XP_011539521.1:p.Phe1375Leu
XM_006710563.3:c.4179T>G XP_006710626.1:p.Phe1393Leu
XM_011541216.2:c.4179T>G XP_011539518.1:p.Phe1393Leu
XM_011541217.2:c.4179T>G XP_011539519.1:p.Phe1393Leu
XM_011541218.2:c.4179T>G XP_011539520.1:p.Phe1393Leu
XM_017000996.1:c.4134T>G XP_016856485.1:p.Phe1378Leu
XM_017000997.1:c.4179T>G XP_016856486.1:p.Phe1393Leu
XM_017000999.1:c.3651T>G XP_016856488.1:p.Phe1217Leu
XM_017001000.2:c.3651T>G XP_016856489.1:p.Phe1217Leu
XM_017001001.1:c.3381T>G XP_016856490.1:p.Phe1127Leu
XM_017001003.1:c.2640T>G XP_016856492.1:p.Phe880Leu
XR_001737114.1:n.4045T>G
XR_001737115.1:n.4030T>G
NM_015102.5:c.4179T>G MANE Select NP_055917.1:p.Phe1393Leu
NM_001291593.2:c.2640T>G NP_001278522.1:p.Phe880Leu
NM_001291594.2:c.2643T>G NP_001278523.1:p.Phe881Leu
NR_111987.2:n.4946T>G