Canonical Allele Identifier: CA338048928

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 1525302
• ClinVar RCV Id: RCV002050326
• dbSNP Id: rs2100372334
• MyVariant Identifiers: chr1:g.5923997G>A (hg19) ; chr1:g.5863937G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863937G>A , CM000663.2:g.5863937G>A	GRCh38
NC_000001.10:g.5923997G>A , CM000663.1:g.5923997G>A	GRCh37
NC_000001.9:g.5846584G>A	NCBI36
NG_011724.2:g.133535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4093C>T MANE Select	ENSP00000367398.4:p.His1365Tyr
ENST00000378156.8:c.4093C>T	ENSP00000367398.4:p.His1365Tyr
ENST00000378161.5:n.3244C>T
ENST00000378169.7:c.*2994C>T	ENSP00000367411.3:n.*2994C>T
ENST00000460696.1:n.2841C>T
ENST00000478423.6:n.3825C>T
ENST00000489180.6:c.*1904C>T	ENSP00000423747.1:n.*1904C>T
NM_001291593.1:c.2554C>T	NP_001278522.1:p.His852Tyr
NM_001291594.1:c.2557C>T	NP_001278523.1:p.His853Tyr
NM_015102.4:c.4093C>T	NP_055917.1:p.His1365Tyr
NR_111987.1:n.4908C>T
XM_006710563.2:c.4093C>T	XP_006710626.1:p.His1365Tyr
XM_006710565.2:c.4093C>T	XP_006710628.1:p.His1365Tyr
XM_011541213.1:c.4090C>T	XP_011539515.1:p.His1364Tyr
XM_011541214.1:c.4051C>T	XP_011539516.1:p.His1351Tyr
XM_011541215.1:c.3982C>T	XP_011539517.1:p.His1328Tyr
XM_011541216.1:c.4093C>T	XP_011539518.1:p.His1365Tyr
XM_011541217.1:c.4093C>T	XP_011539519.1:p.His1365Tyr
XM_011541218.1:c.4093C>T	XP_011539520.1:p.His1365Tyr
XM_011541219.1:c.4039C>T	XP_011539521.1:p.His1347Tyr
XM_006710563.3:c.4093C>T	XP_006710626.1:p.His1365Tyr
XM_011541216.2:c.4093C>T	XP_011539518.1:p.His1365Tyr
XM_011541217.2:c.4093C>T	XP_011539519.1:p.His1365Tyr
XM_011541218.2:c.4093C>T	XP_011539520.1:p.His1365Tyr
XM_017000996.1:c.4048C>T	XP_016856485.1:p.His1350Tyr
XM_017000997.1:c.4093C>T	XP_016856486.1:p.His1365Tyr
XM_017000999.1:c.3565C>T	XP_016856488.1:p.His1189Tyr
XM_017001000.2:c.3565C>T	XP_016856489.1:p.His1189Tyr
XM_017001001.1:c.3295C>T	XP_016856490.1:p.His1099Tyr
XM_017001003.1:c.2554C>T	XP_016856492.1:p.His852Tyr
XR_001737114.1:n.3959C>T
XR_001737115.1:n.3944C>T
NM_015102.5:c.4093C>T MANE Select	NP_055917.1:p.His1365Tyr
NM_001291593.2:c.2554C>T	NP_001278522.1:p.His852Tyr
NM_001291594.2:c.2557C>T	NP_001278523.1:p.His853Tyr
NR_111987.2:n.4860C>T