Canonical Allele Identifier: CA338047313

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923355C>G (hg19) ; chr1:g.5863295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863295C>G , CM000663.2:g.5863295C>G	GRCh38
NC_000001.10:g.5923355C>G , CM000663.1:g.5923355C>G	GRCh37
NC_000001.9:g.5845942C>G	NCBI36
NG_011724.2:g.134177G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4251G>C MANE Select	ENSP00000367398.4:p.Glu1417Asp
ENST00000378156.8:c.4251G>C	ENSP00000367398.4:p.Glu1417Asp
ENST00000378161.5:n.3886G>C
ENST00000378169.7:c.*3152G>C	ENSP00000367411.3:n.*3152G>C
ENST00000460696.1:n.3483G>C
ENST00000478423.6:n.3983G>C
ENST00000489180.6:c.*2062G>C	ENSP00000423747.1:n.*2062G>C
NM_001291593.1:c.2712G>C	NP_001278522.1:p.Glu904Asp
NM_001291594.1:c.2715G>C	NP_001278523.1:p.Glu905Asp
NM_015102.4:c.4251G>C	NP_055917.1:p.Glu1417Asp
NR_111987.1:n.5066G>C
XM_006710563.2:c.4251G>C	XP_006710626.1:p.Glu1417Asp
XM_006710565.2:c.4251G>C	XP_006710628.1:p.Glu1417Asp
XM_011541213.1:c.4248G>C	XP_011539515.1:p.Glu1416Asp
XM_011541214.1:c.4209G>C	XP_011539516.1:p.Glu1403Asp
XM_011541215.1:c.4140G>C	XP_011539517.1:p.Glu1380Asp
XM_011541216.1:c.4251G>C	XP_011539518.1:p.Glu1417Asp
XM_011541217.1:c.4251G>C	XP_011539519.1:p.Glu1417Asp
XM_011541218.1:c.4251G>C	XP_011539520.1:p.Glu1417Asp
XM_011541219.1:c.4197G>C	XP_011539521.1:p.Glu1399Asp
XM_006710563.3:c.4251G>C	XP_006710626.1:p.Glu1417Asp
XM_011541216.2:c.4251G>C	XP_011539518.1:p.Glu1417Asp
XM_011541217.2:c.4251G>C	XP_011539519.1:p.Glu1417Asp
XM_011541218.2:c.4251G>C	XP_011539520.1:p.Glu1417Asp
XM_017000996.1:c.4206G>C	XP_016856485.1:p.Glu1402Asp
XM_017000997.1:c.4251G>C	XP_016856486.1:p.Glu1417Asp
XM_017000999.1:c.3723G>C	XP_016856488.1:p.Glu1241Asp
XM_017001000.2:c.3723G>C	XP_016856489.1:p.Glu1241Asp
XM_017001001.1:c.3453G>C	XP_016856490.1:p.Glu1151Asp
XM_017001003.1:c.2712G>C	XP_016856492.1:p.Glu904Asp
XR_001737114.1:n.4117G>C
XR_001737115.1:n.4102G>C
NM_015102.5:c.4251G>C MANE Select	NP_055917.1:p.Glu1417Asp
NM_001291593.2:c.2712G>C	NP_001278522.1:p.Glu904Asp
NM_001291594.2:c.2715G>C	NP_001278523.1:p.Glu905Asp
NR_111987.2:n.5018G>C