Canonical Allele Identifier: CA415786779

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923358T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863298T>C , CM000663.2:g.5863298T>C	GRCh38
NC_000001.10:g.5923358T>C , CM000663.1:g.5923358T>C	GRCh37
NC_000001.9:g.5845945T>C	NCBI36
NG_011724.2:g.134174A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4248A>G MANE Select	ENSP00000367398.4:p.Glu1416=
ENST00000378156.8:c.4248A>G	ENSP00000367398.4:p.Glu1416=
ENST00000378161.5:n.3883A>G
ENST00000378169.7:c.*3149A>G	ENSP00000367411.3:n.*3149A>G
ENST00000460696.1:n.3480A>G
ENST00000478423.6:n.3980A>G
ENST00000489180.6:c.*2059A>G	ENSP00000423747.1:n.*2059A>G
NM_001291593.1:c.2709A>G	NP_001278522.1:p.Glu903=
NM_001291594.1:c.2712A>G	NP_001278523.1:p.Glu904=
NM_015102.4:c.4248A>G	NP_055917.1:p.Glu1416=
NR_111987.1:n.5063A>G
XM_006710563.2:c.4248A>G	XP_006710626.1:p.Glu1416=
XM_006710565.2:c.4248A>G	XP_006710628.1:p.Glu1416=
XM_011541213.1:c.4245A>G	XP_011539515.1:p.Glu1415=
XM_011541214.1:c.4206A>G	XP_011539516.1:p.Glu1402=
XM_011541215.1:c.4137A>G	XP_011539517.1:p.Glu1379=
XM_011541216.1:c.4248A>G	XP_011539518.1:p.Glu1416=
XM_011541217.1:c.4248A>G	XP_011539519.1:p.Glu1416=
XM_011541218.1:c.4248A>G	XP_011539520.1:p.Glu1416=
XM_011541219.1:c.4194A>G	XP_011539521.1:p.Glu1398=
XM_006710563.3:c.4248A>G	XP_006710626.1:p.Glu1416=
XM_011541216.2:c.4248A>G	XP_011539518.1:p.Glu1416=
XM_011541217.2:c.4248A>G	XP_011539519.1:p.Glu1416=
XM_011541218.2:c.4248A>G	XP_011539520.1:p.Glu1416=
XM_017000996.1:c.4203A>G	XP_016856485.1:p.Glu1401=
XM_017000997.1:c.4248A>G	XP_016856486.1:p.Glu1416=
XM_017000999.1:c.3720A>G	XP_016856488.1:p.Glu1240=
XM_017001000.2:c.3720A>G	XP_016856489.1:p.Glu1240=
XM_017001001.1:c.3450A>G	XP_016856490.1:p.Glu1150=
XM_017001003.1:c.2709A>G	XP_016856492.1:p.Glu903=
XR_001737114.1:n.4114A>G
XR_001737115.1:n.4099A>G
NM_015102.5:c.4248A>G MANE Select	NP_055917.1:p.Glu1416=
NM_001291593.2:c.2709A>G	NP_001278522.1:p.Glu903=
NM_001291594.2:c.2712A>G	NP_001278523.1:p.Glu904=
NR_111987.2:n.5015A>G