Canonical Allele Identifier: CA553379

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 594982
• ClinVar RCV Id: RCV000730402 ; RCV002536444 ; RCV004527763 ; RCV004026991
• dbSNP Id: rs760369582
• ExAC: 1:5924084 T / C
• gnomAD v2: 1-5924084-T-C
• gnomAD v4: 1-5864024-T-C
• MyVariant Identifiers: chr1:g.5924084T>C (hg19) ; chr1:g.5864024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864024T>C , CM000663.2:g.5864024T>C	GRCh38
NC_000001.10:g.5924084T>C , CM000663.1:g.5924084T>C	GRCh37
NC_000001.9:g.5846671T>C	NCBI36
NG_011724.2:g.133448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4006A>G MANE Select	ENSP00000367398.4:p.Ile1336Val
ENST00000378156.8:c.4006A>G	ENSP00000367398.4:p.Ile1336Val
ENST00000378161.5:n.3157A>G
ENST00000378169.7:c.*2907A>G	ENSP00000367411.3:n.*2907A>G
ENST00000460696.1:n.2754A>G
ENST00000478423.6:n.3738A>G
ENST00000489180.6:c.*1817A>G	ENSP00000423747.1:n.*1817A>G
NM_001291593.1:c.2467A>G	NP_001278522.1:p.Ile823Val
NM_001291594.1:c.2470A>G	NP_001278523.1:p.Ile824Val
NM_015102.4:c.4006A>G	NP_055917.1:p.Ile1336Val
NR_111987.1:n.4821A>G
XM_006710563.2:c.4006A>G	XP_006710626.1:p.Ile1336Val
XM_006710565.2:c.4006A>G	XP_006710628.1:p.Ile1336Val
XM_011541213.1:c.4003A>G	XP_011539515.1:p.Ile1335Val
XM_011541214.1:c.3964A>G	XP_011539516.1:p.Ile1322Val
XM_011541215.1:c.3895A>G	XP_011539517.1:p.Ile1299Val
XM_011541216.1:c.4006A>G	XP_011539518.1:p.Ile1336Val
XM_011541217.1:c.4006A>G	XP_011539519.1:p.Ile1336Val
XM_011541218.1:c.4006A>G	XP_011539520.1:p.Ile1336Val
XM_011541219.1:c.3952A>G	XP_011539521.1:p.Ile1318Val
XM_006710563.3:c.4006A>G	XP_006710626.1:p.Ile1336Val
XM_011541216.2:c.4006A>G	XP_011539518.1:p.Ile1336Val
XM_011541217.2:c.4006A>G	XP_011539519.1:p.Ile1336Val
XM_011541218.2:c.4006A>G	XP_011539520.1:p.Ile1336Val
XM_017000996.1:c.3961A>G	XP_016856485.1:p.Ile1321Val
XM_017000997.1:c.4006A>G	XP_016856486.1:p.Ile1336Val
XM_017000999.1:c.3478A>G	XP_016856488.1:p.Ile1160Val
XM_017001000.2:c.3478A>G	XP_016856489.1:p.Ile1160Val
XM_017001001.1:c.3208A>G	XP_016856490.1:p.Ile1070Val
XM_017001003.1:c.2467A>G	XP_016856492.1:p.Ile823Val
XR_001737114.1:n.3872A>G
XR_001737115.1:n.3857A>G
NM_015102.5:c.4006A>G MANE Select	NP_055917.1:p.Ile1336Val
NM_001291593.2:c.2467A>G	NP_001278522.1:p.Ile823Val
NM_001291594.2:c.2470A>G	NP_001278523.1:p.Ile824Val
NR_111987.2:n.4773A>G