Canonical Allele Identifier: CA338049234
Gene: NPHP4 HGNC NCBI

Linked Data

dbSNP Id: rs1177226359
gnomAD v4: 1-5864014-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5864014G>C , CM000663.2:g.5864014G>C GRCh38
NC_000001.10:g.5924074G>C , CM000663.1:g.5924074G>C GRCh37
NC_000001.9:g.5846661G>C NCBI36
NG_011724.2:g.133458C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4016C>G MANE Select ENSP00000367398.4:p.Ala1339Gly
ENST00000378156.8:c.4016C>G ENSP00000367398.4:p.Ala1339Gly
ENST00000378161.5:n.3167C>G
ENST00000378169.7:c.*2917C>G ENSP00000367411.3:n.*2917C>G
ENST00000460696.1:n.2764C>G
ENST00000478423.6:n.3748C>G
ENST00000489180.6:c.*1827C>G ENSP00000423747.1:n.*1827C>G
NM_001291593.1:c.2477C>G NP_001278522.1:p.Ala826Gly
NM_001291594.1:c.2480C>G NP_001278523.1:p.Ala827Gly
NM_015102.4:c.4016C>G NP_055917.1:p.Ala1339Gly
NR_111987.1:n.4831C>G
XM_006710563.2:c.4016C>G XP_006710626.1:p.Ala1339Gly
XM_006710565.2:c.4016C>G XP_006710628.1:p.Ala1339Gly
XM_011541213.1:c.4013C>G XP_011539515.1:p.Ala1338Gly
XM_011541214.1:c.3974C>G XP_011539516.1:p.Ala1325Gly
XM_011541215.1:c.3905C>G XP_011539517.1:p.Ala1302Gly
XM_011541216.1:c.4016C>G XP_011539518.1:p.Ala1339Gly
XM_011541217.1:c.4016C>G XP_011539519.1:p.Ala1339Gly
XM_011541218.1:c.4016C>G XP_011539520.1:p.Ala1339Gly
XM_011541219.1:c.3962C>G XP_011539521.1:p.Ala1321Gly
XM_006710563.3:c.4016C>G XP_006710626.1:p.Ala1339Gly
XM_011541216.2:c.4016C>G XP_011539518.1:p.Ala1339Gly
XM_011541217.2:c.4016C>G XP_011539519.1:p.Ala1339Gly
XM_011541218.2:c.4016C>G XP_011539520.1:p.Ala1339Gly
XM_017000996.1:c.3971C>G XP_016856485.1:p.Ala1324Gly
XM_017000997.1:c.4016C>G XP_016856486.1:p.Ala1339Gly
XM_017000999.1:c.3488C>G XP_016856488.1:p.Ala1163Gly
XM_017001000.2:c.3488C>G XP_016856489.1:p.Ala1163Gly
XM_017001001.1:c.3218C>G XP_016856490.1:p.Ala1073Gly
XM_017001003.1:c.2477C>G XP_016856492.1:p.Ala826Gly
XR_001737114.1:n.3882C>G
XR_001737115.1:n.3867C>G
NM_015102.5:c.4016C>G MANE Select NP_055917.1:p.Ala1339Gly
NM_001291593.2:c.2477C>G NP_001278522.1:p.Ala826Gly
NM_001291594.2:c.2480C>G NP_001278523.1:p.Ala827Gly
NR_111987.2:n.4783C>G