Canonical Allele Identifier: CA415786770

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923352T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863292T>G , CM000663.2:g.5863292T>G	GRCh38
NC_000001.10:g.5923352T>G , CM000663.1:g.5923352T>G	GRCh37
NC_000001.9:g.5845939T>G	NCBI36
NG_011724.2:g.134180A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4254A>C MANE Select	ENSP00000367398.4:p.Ala1418=
ENST00000378156.8:c.4254A>C	ENSP00000367398.4:p.Ala1418=
ENST00000378161.5:n.3889A>C
ENST00000378169.7:c.*3155A>C	ENSP00000367411.3:n.*3155A>C
ENST00000460696.1:n.3486A>C
ENST00000478423.6:n.3986A>C
ENST00000489180.6:c.*2065A>C	ENSP00000423747.1:n.*2065A>C
NM_001291593.1:c.2715A>C	NP_001278522.1:p.Ala905=
NM_001291594.1:c.2718A>C	NP_001278523.1:p.Ala906=
NM_015102.4:c.4254A>C	NP_055917.1:p.Ala1418=
NR_111987.1:n.5069A>C
XM_006710563.2:c.4254A>C	XP_006710626.1:p.Ala1418=
XM_006710565.2:c.4254A>C	XP_006710628.1:p.Ala1418=
XM_011541213.1:c.4251A>C	XP_011539515.1:p.Ala1417=
XM_011541214.1:c.4212A>C	XP_011539516.1:p.Ala1404=
XM_011541215.1:c.4143A>C	XP_011539517.1:p.Ala1381=
XM_011541216.1:c.4254A>C	XP_011539518.1:p.Ala1418=
XM_011541217.1:c.4254A>C	XP_011539519.1:p.Ala1418=
XM_011541218.1:c.4254A>C	XP_011539520.1:p.Ala1418=
XM_011541219.1:c.4200A>C	XP_011539521.1:p.Ala1400=
XM_006710563.3:c.4254A>C	XP_006710626.1:p.Ala1418=
XM_011541216.2:c.4254A>C	XP_011539518.1:p.Ala1418=
XM_011541217.2:c.4254A>C	XP_011539519.1:p.Ala1418=
XM_011541218.2:c.4254A>C	XP_011539520.1:p.Ala1418=
XM_017000996.1:c.4209A>C	XP_016856485.1:p.Ala1403=
XM_017000997.1:c.4254A>C	XP_016856486.1:p.Ala1418=
XM_017000999.1:c.3726A>C	XP_016856488.1:p.Ala1242=
XM_017001000.2:c.3726A>C	XP_016856489.1:p.Ala1242=
XM_017001001.1:c.3456A>C	XP_016856490.1:p.Ala1152=
XM_017001003.1:c.2715A>C	XP_016856492.1:p.Ala905=
XR_001737114.1:n.4120A>C
XR_001737115.1:n.4105A>C
NM_015102.5:c.4254A>C MANE Select	NP_055917.1:p.Ala1418=
NM_001291593.2:c.2715A>C	NP_001278522.1:p.Ala905=
NM_001291594.2:c.2718A>C	NP_001278523.1:p.Ala906=
NR_111987.2:n.5021A>C