Canonical Allele Identifier: CA553348

Gene: NPHP4

Linked Data

• dbSNP Id: rs749185113
• ExAC: 1:5923963 T / C
• gnomAD v2: 1-5923963-T-C
• gnomAD v4: 1-5863903-T-C
• MyVariant Identifiers: chr1:g.5923963T>C (hg19) ; chr1:g.5863903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863903T>C , CM000663.2:g.5863903T>C	GRCh38
NC_000001.10:g.5923963T>C , CM000663.1:g.5923963T>C	GRCh37
NC_000001.9:g.5846550T>C	NCBI36
NG_011724.2:g.133569A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4127A>G MANE Select	ENSP00000367398.4:p.Glu1376Gly
ENST00000378156.8:c.4127A>G	ENSP00000367398.4:p.Glu1376Gly
ENST00000378161.5:n.3278A>G
ENST00000378169.7:c.*3028A>G	ENSP00000367411.3:n.*3028A>G
ENST00000460696.1:n.2875A>G
ENST00000478423.6:n.3859A>G
ENST00000489180.6:c.*1938A>G	ENSP00000423747.1:n.*1938A>G
NM_001291593.1:c.2588A>G	NP_001278522.1:p.Glu863Gly
NM_001291594.1:c.2591A>G	NP_001278523.1:p.Glu864Gly
NM_015102.4:c.4127A>G	NP_055917.1:p.Glu1376Gly
NR_111987.1:n.4942A>G
XM_006710563.2:c.4127A>G	XP_006710626.1:p.Glu1376Gly
XM_006710565.2:c.4127A>G	XP_006710628.1:p.Glu1376Gly
XM_011541213.1:c.4124A>G	XP_011539515.1:p.Glu1375Gly
XM_011541214.1:c.4085A>G	XP_011539516.1:p.Glu1362Gly
XM_011541215.1:c.4016A>G	XP_011539517.1:p.Glu1339Gly
XM_011541216.1:c.4127A>G	XP_011539518.1:p.Glu1376Gly
XM_011541217.1:c.4127A>G	XP_011539519.1:p.Glu1376Gly
XM_011541218.1:c.4127A>G	XP_011539520.1:p.Glu1376Gly
XM_011541219.1:c.4073A>G	XP_011539521.1:p.Glu1358Gly
XM_006710563.3:c.4127A>G	XP_006710626.1:p.Glu1376Gly
XM_011541216.2:c.4127A>G	XP_011539518.1:p.Glu1376Gly
XM_011541217.2:c.4127A>G	XP_011539519.1:p.Glu1376Gly
XM_011541218.2:c.4127A>G	XP_011539520.1:p.Glu1376Gly
XM_017000996.1:c.4082A>G	XP_016856485.1:p.Glu1361Gly
XM_017000997.1:c.4127A>G	XP_016856486.1:p.Glu1376Gly
XM_017000999.1:c.3599A>G	XP_016856488.1:p.Glu1200Gly
XM_017001000.2:c.3599A>G	XP_016856489.1:p.Glu1200Gly
XM_017001001.1:c.3329A>G	XP_016856490.1:p.Glu1110Gly
XM_017001003.1:c.2588A>G	XP_016856492.1:p.Glu863Gly
XR_001737114.1:n.3993A>G
XR_001737115.1:n.3978A>G
NM_015102.5:c.4127A>G MANE Select	NP_055917.1:p.Glu1376Gly
NM_001291593.2:c.2588A>G	NP_001278522.1:p.Glu863Gly
NM_001291594.2:c.2591A>G	NP_001278523.1:p.Glu864Gly
NR_111987.2:n.4894A>G