Canonical Allele Identifier: CA553290

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 1386544
• ClinVar RCV Id: RCV001881514
• dbSNP Id: rs746775119
• ExAC: 1:5923357 C / T
• gnomAD v2: 1-5923357-C-T
• gnomAD v4: 1-5863297-C-T
• MyVariant Identifiers: chr1:g.5923357C>T (hg19) ; chr1:g.5863297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863297C>T , CM000663.2:g.5863297C>T	GRCh38
NC_000001.10:g.5923357C>T , CM000663.1:g.5923357C>T	GRCh37
NC_000001.9:g.5845944C>T	NCBI36
NG_011724.2:g.134175G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4249G>A MANE Select	ENSP00000367398.4:p.Glu1417Lys
ENST00000378156.8:c.4249G>A	ENSP00000367398.4:p.Glu1417Lys
ENST00000378161.5:n.3884G>A
ENST00000378169.7:c.*3150G>A	ENSP00000367411.3:n.*3150G>A
ENST00000460696.1:n.3481G>A
ENST00000478423.6:n.3981G>A
ENST00000489180.6:c.*2060G>A	ENSP00000423747.1:n.*2060G>A
NM_001291593.1:c.2710G>A	NP_001278522.1:p.Glu904Lys
NM_001291594.1:c.2713G>A	NP_001278523.1:p.Glu905Lys
NM_015102.4:c.4249G>A	NP_055917.1:p.Glu1417Lys
NR_111987.1:n.5064G>A
XM_006710563.2:c.4249G>A	XP_006710626.1:p.Glu1417Lys
XM_006710565.2:c.4249G>A	XP_006710628.1:p.Glu1417Lys
XM_011541213.1:c.4246G>A	XP_011539515.1:p.Glu1416Lys
XM_011541214.1:c.4207G>A	XP_011539516.1:p.Glu1403Lys
XM_011541215.1:c.4138G>A	XP_011539517.1:p.Glu1380Lys
XM_011541216.1:c.4249G>A	XP_011539518.1:p.Glu1417Lys
XM_011541217.1:c.4249G>A	XP_011539519.1:p.Glu1417Lys
XM_011541218.1:c.4249G>A	XP_011539520.1:p.Glu1417Lys
XM_011541219.1:c.4195G>A	XP_011539521.1:p.Glu1399Lys
XM_006710563.3:c.4249G>A	XP_006710626.1:p.Glu1417Lys
XM_011541216.2:c.4249G>A	XP_011539518.1:p.Glu1417Lys
XM_011541217.2:c.4249G>A	XP_011539519.1:p.Glu1417Lys
XM_011541218.2:c.4249G>A	XP_011539520.1:p.Glu1417Lys
XM_017000996.1:c.4204G>A	XP_016856485.1:p.Glu1402Lys
XM_017000997.1:c.4249G>A	XP_016856486.1:p.Glu1417Lys
XM_017000999.1:c.3721G>A	XP_016856488.1:p.Glu1241Lys
XM_017001000.2:c.3721G>A	XP_016856489.1:p.Glu1241Lys
XM_017001001.1:c.3451G>A	XP_016856490.1:p.Glu1151Lys
XM_017001003.1:c.2710G>A	XP_016856492.1:p.Glu904Lys
XR_001737114.1:n.4115G>A
XR_001737115.1:n.4100G>A
NM_015102.5:c.4249G>A MANE Select	NP_055917.1:p.Glu1417Lys
NM_001291593.2:c.2710G>A	NP_001278522.1:p.Glu904Lys
NM_001291594.2:c.2713G>A	NP_001278523.1:p.Glu905Lys
NR_111987.2:n.5016G>A