Canonical Allele Identifier: CA338049183

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924062C>G (hg19) ; chr1:g.5864002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864002C>G , CM000663.2:g.5864002C>G	GRCh38
NC_000001.10:g.5924062C>G , CM000663.1:g.5924062C>G	GRCh37
NC_000001.9:g.5846649C>G	NCBI36
NG_011724.2:g.133470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4028G>C MANE Select	ENSP00000367398.4:p.Gly1343Ala
ENST00000378156.8:c.4028G>C	ENSP00000367398.4:p.Gly1343Ala
ENST00000378161.5:n.3179G>C
ENST00000378169.7:c.*2929G>C	ENSP00000367411.3:n.*2929G>C
ENST00000460696.1:n.2776G>C
ENST00000478423.6:n.3760G>C
ENST00000489180.6:c.*1839G>C	ENSP00000423747.1:n.*1839G>C
NM_001291593.1:c.2489G>C	NP_001278522.1:p.Gly830Ala
NM_001291594.1:c.2492G>C	NP_001278523.1:p.Gly831Ala
NM_015102.4:c.4028G>C	NP_055917.1:p.Gly1343Ala
NR_111987.1:n.4843G>C
XM_006710563.2:c.4028G>C	XP_006710626.1:p.Gly1343Ala
XM_006710565.2:c.4028G>C	XP_006710628.1:p.Gly1343Ala
XM_011541213.1:c.4025G>C	XP_011539515.1:p.Gly1342Ala
XM_011541214.1:c.3986G>C	XP_011539516.1:p.Gly1329Ala
XM_011541215.1:c.3917G>C	XP_011539517.1:p.Gly1306Ala
XM_011541216.1:c.4028G>C	XP_011539518.1:p.Gly1343Ala
XM_011541217.1:c.4028G>C	XP_011539519.1:p.Gly1343Ala
XM_011541218.1:c.4028G>C	XP_011539520.1:p.Gly1343Ala
XM_011541219.1:c.3974G>C	XP_011539521.1:p.Gly1325Ala
XM_006710563.3:c.4028G>C	XP_006710626.1:p.Gly1343Ala
XM_011541216.2:c.4028G>C	XP_011539518.1:p.Gly1343Ala
XM_011541217.2:c.4028G>C	XP_011539519.1:p.Gly1343Ala
XM_011541218.2:c.4028G>C	XP_011539520.1:p.Gly1343Ala
XM_017000996.1:c.3983G>C	XP_016856485.1:p.Gly1328Ala
XM_017000997.1:c.4028G>C	XP_016856486.1:p.Gly1343Ala
XM_017000999.1:c.3500G>C	XP_016856488.1:p.Gly1167Ala
XM_017001000.2:c.3500G>C	XP_016856489.1:p.Gly1167Ala
XM_017001001.1:c.3230G>C	XP_016856490.1:p.Gly1077Ala
XM_017001003.1:c.2489G>C	XP_016856492.1:p.Gly830Ala
XR_001737114.1:n.3894G>C
XR_001737115.1:n.3879G>C
NM_015102.5:c.4028G>C MANE Select	NP_055917.1:p.Gly1343Ala
NM_001291593.2:c.2489G>C	NP_001278522.1:p.Gly830Ala
NM_001291594.2:c.2492G>C	NP_001278523.1:p.Gly831Ala
NR_111987.2:n.4795G>C