Canonical Allele Identifier: CA338047318

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923356T>C (hg19) ; chr1:g.5863296T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863296T>C , CM000663.2:g.5863296T>C	GRCh38
NC_000001.10:g.5923356T>C , CM000663.1:g.5923356T>C	GRCh37
NC_000001.9:g.5845943T>C	NCBI36
NG_011724.2:g.134176A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4250A>G MANE Select	ENSP00000367398.4:p.Glu1417Gly
ENST00000378156.8:c.4250A>G	ENSP00000367398.4:p.Glu1417Gly
ENST00000378161.5:n.3885A>G
ENST00000378169.7:c.*3151A>G	ENSP00000367411.3:n.*3151A>G
ENST00000460696.1:n.3482A>G
ENST00000478423.6:n.3982A>G
ENST00000489180.6:c.*2061A>G	ENSP00000423747.1:n.*2061A>G
NM_001291593.1:c.2711A>G	NP_001278522.1:p.Glu904Gly
NM_001291594.1:c.2714A>G	NP_001278523.1:p.Glu905Gly
NM_015102.4:c.4250A>G	NP_055917.1:p.Glu1417Gly
NR_111987.1:n.5065A>G
XM_006710563.2:c.4250A>G	XP_006710626.1:p.Glu1417Gly
XM_006710565.2:c.4250A>G	XP_006710628.1:p.Glu1417Gly
XM_011541213.1:c.4247A>G	XP_011539515.1:p.Glu1416Gly
XM_011541214.1:c.4208A>G	XP_011539516.1:p.Glu1403Gly
XM_011541215.1:c.4139A>G	XP_011539517.1:p.Glu1380Gly
XM_011541216.1:c.4250A>G	XP_011539518.1:p.Glu1417Gly
XM_011541217.1:c.4250A>G	XP_011539519.1:p.Glu1417Gly
XM_011541218.1:c.4250A>G	XP_011539520.1:p.Glu1417Gly
XM_011541219.1:c.4196A>G	XP_011539521.1:p.Glu1399Gly
XM_006710563.3:c.4250A>G	XP_006710626.1:p.Glu1417Gly
XM_011541216.2:c.4250A>G	XP_011539518.1:p.Glu1417Gly
XM_011541217.2:c.4250A>G	XP_011539519.1:p.Glu1417Gly
XM_011541218.2:c.4250A>G	XP_011539520.1:p.Glu1417Gly
XM_017000996.1:c.4205A>G	XP_016856485.1:p.Glu1402Gly
XM_017000997.1:c.4250A>G	XP_016856486.1:p.Glu1417Gly
XM_017000999.1:c.3722A>G	XP_016856488.1:p.Glu1241Gly
XM_017001000.2:c.3722A>G	XP_016856489.1:p.Glu1241Gly
XM_017001001.1:c.3452A>G	XP_016856490.1:p.Glu1151Gly
XM_017001003.1:c.2711A>G	XP_016856492.1:p.Glu904Gly
XR_001737114.1:n.4116A>G
XR_001737115.1:n.4101A>G
NM_015102.5:c.4250A>G MANE Select	NP_055917.1:p.Glu1417Gly
NM_001291593.2:c.2711A>G	NP_001278522.1:p.Glu904Gly
NM_001291594.2:c.2714A>G	NP_001278523.1:p.Glu905Gly
NR_111987.2:n.5017A>G