Canonical Allele Identifier: CA338048835

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 499386
• ClinVar RCV Id: RCV000598274 ; RCV001242483 ; RCV002483605
• dbSNP Id: rs768550124
• gnomAD v2: 1-5923972-C-T
• gnomAD v3: 1-5863912-C-T
• gnomAD v4: 1-5863912-C-T
• COSMIC: COSM6215386
• MyVariant Identifiers: chr1:g.5923972C>T (hg19) ; chr1:g.5863912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863912C>T , CM000663.2:g.5863912C>T	GRCh38
NC_000001.10:g.5923972C>T , CM000663.1:g.5923972C>T	GRCh37
NC_000001.9:g.5846559C>T	NCBI36
NG_011724.2:g.133560G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4118G>A MANE Select	ENSP00000367398.4:p.Arg1373Gln
ENST00000378156.8:c.4118G>A	ENSP00000367398.4:p.Arg1373Gln
ENST00000378161.5:n.3269G>A
ENST00000378169.7:c.*3019G>A	ENSP00000367411.3:n.*3019G>A
ENST00000460696.1:n.2866G>A
ENST00000478423.6:n.3850G>A
ENST00000489180.6:c.*1929G>A	ENSP00000423747.1:n.*1929G>A
NM_001291593.1:c.2579G>A	NP_001278522.1:p.Arg860Gln
NM_001291594.1:c.2582G>A	NP_001278523.1:p.Arg861Gln
NM_015102.4:c.4118G>A	NP_055917.1:p.Arg1373Gln
NR_111987.1:n.4933G>A
XM_006710563.2:c.4118G>A	XP_006710626.1:p.Arg1373Gln
XM_006710565.2:c.4118G>A	XP_006710628.1:p.Arg1373Gln
XM_011541213.1:c.4115G>A	XP_011539515.1:p.Arg1372Gln
XM_011541214.1:c.4076G>A	XP_011539516.1:p.Arg1359Gln
XM_011541215.1:c.4007G>A	XP_011539517.1:p.Arg1336Gln
XM_011541216.1:c.4118G>A	XP_011539518.1:p.Arg1373Gln
XM_011541217.1:c.4118G>A	XP_011539519.1:p.Arg1373Gln
XM_011541218.1:c.4118G>A	XP_011539520.1:p.Arg1373Gln
XM_011541219.1:c.4064G>A	XP_011539521.1:p.Arg1355Gln
XM_006710563.3:c.4118G>A	XP_006710626.1:p.Arg1373Gln
XM_011541216.2:c.4118G>A	XP_011539518.1:p.Arg1373Gln
XM_011541217.2:c.4118G>A	XP_011539519.1:p.Arg1373Gln
XM_011541218.2:c.4118G>A	XP_011539520.1:p.Arg1373Gln
XM_017000996.1:c.4073G>A	XP_016856485.1:p.Arg1358Gln
XM_017000997.1:c.4118G>A	XP_016856486.1:p.Arg1373Gln
XM_017000999.1:c.3590G>A	XP_016856488.1:p.Arg1197Gln
XM_017001000.2:c.3590G>A	XP_016856489.1:p.Arg1197Gln
XM_017001001.1:c.3320G>A	XP_016856490.1:p.Arg1107Gln
XM_017001003.1:c.2579G>A	XP_016856492.1:p.Arg860Gln
XR_001737114.1:n.3984G>A
XR_001737115.1:n.3969G>A
NM_015102.5:c.4118G>A MANE Select	NP_055917.1:p.Arg1373Gln
NM_001291593.2:c.2579G>A	NP_001278522.1:p.Arg860Gln
NM_001291594.2:c.2582G>A	NP_001278523.1:p.Arg861Gln
NR_111987.2:n.4885G>A