Canonical Allele Identifier: CA553356

Gene: NPHP4

Linked Data

• dbSNP Id: rs763599698
• ExAC: 1:5923995 G / C
• gnomAD v2: 1-5923995-G-C
• gnomAD v4: 1-5863935-G-C
• MyVariant Identifiers: chr1:g.5923995G>C (hg19) ; chr1:g.5863935G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863935G>C , CM000663.2:g.5863935G>C	GRCh38
NC_000001.10:g.5923995G>C , CM000663.1:g.5923995G>C	GRCh37
NC_000001.9:g.5846582G>C	NCBI36
NG_011724.2:g.133537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4095C>G MANE Select	ENSP00000367398.4:p.His1365Gln
ENST00000378156.8:c.4095C>G	ENSP00000367398.4:p.His1365Gln
ENST00000378161.5:n.3246C>G
ENST00000378169.7:c.*2996C>G	ENSP00000367411.3:n.*2996C>G
ENST00000460696.1:n.2843C>G
ENST00000478423.6:n.3827C>G
ENST00000489180.6:c.*1906C>G	ENSP00000423747.1:n.*1906C>G
NM_001291593.1:c.2556C>G	NP_001278522.1:p.His852Gln
NM_001291594.1:c.2559C>G	NP_001278523.1:p.His853Gln
NM_015102.4:c.4095C>G	NP_055917.1:p.His1365Gln
NR_111987.1:n.4910C>G
XM_006710563.2:c.4095C>G	XP_006710626.1:p.His1365Gln
XM_006710565.2:c.4095C>G	XP_006710628.1:p.His1365Gln
XM_011541213.1:c.4092C>G	XP_011539515.1:p.His1364Gln
XM_011541214.1:c.4053C>G	XP_011539516.1:p.His1351Gln
XM_011541215.1:c.3984C>G	XP_011539517.1:p.His1328Gln
XM_011541216.1:c.4095C>G	XP_011539518.1:p.His1365Gln
XM_011541217.1:c.4095C>G	XP_011539519.1:p.His1365Gln
XM_011541218.1:c.4095C>G	XP_011539520.1:p.His1365Gln
XM_011541219.1:c.4041C>G	XP_011539521.1:p.His1347Gln
XM_006710563.3:c.4095C>G	XP_006710626.1:p.His1365Gln
XM_011541216.2:c.4095C>G	XP_011539518.1:p.His1365Gln
XM_011541217.2:c.4095C>G	XP_011539519.1:p.His1365Gln
XM_011541218.2:c.4095C>G	XP_011539520.1:p.His1365Gln
XM_017000996.1:c.4050C>G	XP_016856485.1:p.His1350Gln
XM_017000997.1:c.4095C>G	XP_016856486.1:p.His1365Gln
XM_017000999.1:c.3567C>G	XP_016856488.1:p.His1189Gln
XM_017001000.2:c.3567C>G	XP_016856489.1:p.His1189Gln
XM_017001001.1:c.3297C>G	XP_016856490.1:p.His1099Gln
XM_017001003.1:c.2556C>G	XP_016856492.1:p.His852Gln
XR_001737114.1:n.3961C>G
XR_001737115.1:n.3946C>G
NM_015102.5:c.4095C>G MANE Select	NP_055917.1:p.His1365Gln
NM_001291593.2:c.2556C>G	NP_001278522.1:p.His852Gln
NM_001291594.2:c.2559C>G	NP_001278523.1:p.His853Gln
NR_111987.2:n.4862C>G