Canonical Allele Identifier: CA338049110

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924044C>A (hg19) ; chr1:g.5863984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863984C>A , CM000663.2:g.5863984C>A	GRCh38
NC_000001.10:g.5924044C>A , CM000663.1:g.5924044C>A	GRCh37
NC_000001.9:g.5846631C>A	NCBI36
NG_011724.2:g.133488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4046G>T MANE Select	ENSP00000367398.4:p.Arg1349Met
ENST00000378156.8:c.4046G>T	ENSP00000367398.4:p.Arg1349Met
ENST00000378161.5:n.3197G>T
ENST00000378169.7:c.*2947G>T	ENSP00000367411.3:n.*2947G>T
ENST00000460696.1:n.2794G>T
ENST00000478423.6:n.3778G>T
ENST00000489180.6:c.*1857G>T	ENSP00000423747.1:n.*1857G>T
NM_001291593.1:c.2507G>T	NP_001278522.1:p.Arg836Met
NM_001291594.1:c.2510G>T	NP_001278523.1:p.Arg837Met
NM_015102.4:c.4046G>T	NP_055917.1:p.Arg1349Met
NR_111987.1:n.4861G>T
XM_006710563.2:c.4046G>T	XP_006710626.1:p.Arg1349Met
XM_006710565.2:c.4046G>T	XP_006710628.1:p.Arg1349Met
XM_011541213.1:c.4043G>T	XP_011539515.1:p.Arg1348Met
XM_011541214.1:c.4004G>T	XP_011539516.1:p.Arg1335Met
XM_011541215.1:c.3935G>T	XP_011539517.1:p.Arg1312Met
XM_011541216.1:c.4046G>T	XP_011539518.1:p.Arg1349Met
XM_011541217.1:c.4046G>T	XP_011539519.1:p.Arg1349Met
XM_011541218.1:c.4046G>T	XP_011539520.1:p.Arg1349Met
XM_011541219.1:c.3992G>T	XP_011539521.1:p.Arg1331Met
XM_006710563.3:c.4046G>T	XP_006710626.1:p.Arg1349Met
XM_011541216.2:c.4046G>T	XP_011539518.1:p.Arg1349Met
XM_011541217.2:c.4046G>T	XP_011539519.1:p.Arg1349Met
XM_011541218.2:c.4046G>T	XP_011539520.1:p.Arg1349Met
XM_017000996.1:c.4001G>T	XP_016856485.1:p.Arg1334Met
XM_017000997.1:c.4046G>T	XP_016856486.1:p.Arg1349Met
XM_017000999.1:c.3518G>T	XP_016856488.1:p.Arg1173Met
XM_017001000.2:c.3518G>T	XP_016856489.1:p.Arg1173Met
XM_017001001.1:c.3248G>T	XP_016856490.1:p.Arg1083Met
XM_017001003.1:c.2507G>T	XP_016856492.1:p.Arg836Met
XR_001737114.1:n.3912G>T
XR_001737115.1:n.3897G>T
NM_015102.5:c.4046G>T MANE Select	NP_055917.1:p.Arg1349Met
NM_001291593.2:c.2507G>T	NP_001278522.1:p.Arg836Met
NM_001291594.2:c.2510G>T	NP_001278523.1:p.Arg837Met
NR_111987.2:n.4813G>T