Canonical Allele Identifier: CA338049211

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924068C>T (hg19) ; chr1:g.5864008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864008C>T , CM000663.2:g.5864008C>T	GRCh38
NC_000001.10:g.5924068C>T , CM000663.1:g.5924068C>T	GRCh37
NC_000001.9:g.5846655C>T	NCBI36
NG_011724.2:g.133464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4022G>A MANE Select	ENSP00000367398.4:p.Gly1341Asp
ENST00000378156.8:c.4022G>A	ENSP00000367398.4:p.Gly1341Asp
ENST00000378161.5:n.3173G>A
ENST00000378169.7:c.*2923G>A	ENSP00000367411.3:n.*2923G>A
ENST00000460696.1:n.2770G>A
ENST00000478423.6:n.3754G>A
ENST00000489180.6:c.*1833G>A	ENSP00000423747.1:n.*1833G>A
NM_001291593.1:c.2483G>A	NP_001278522.1:p.Gly828Asp
NM_001291594.1:c.2486G>A	NP_001278523.1:p.Gly829Asp
NM_015102.4:c.4022G>A	NP_055917.1:p.Gly1341Asp
NR_111987.1:n.4837G>A
XM_006710563.2:c.4022G>A	XP_006710626.1:p.Gly1341Asp
XM_006710565.2:c.4022G>A	XP_006710628.1:p.Gly1341Asp
XM_011541213.1:c.4019G>A	XP_011539515.1:p.Gly1340Asp
XM_011541214.1:c.3980G>A	XP_011539516.1:p.Gly1327Asp
XM_011541215.1:c.3911G>A	XP_011539517.1:p.Gly1304Asp
XM_011541216.1:c.4022G>A	XP_011539518.1:p.Gly1341Asp
XM_011541217.1:c.4022G>A	XP_011539519.1:p.Gly1341Asp
XM_011541218.1:c.4022G>A	XP_011539520.1:p.Gly1341Asp
XM_011541219.1:c.3968G>A	XP_011539521.1:p.Gly1323Asp
XM_006710563.3:c.4022G>A	XP_006710626.1:p.Gly1341Asp
XM_011541216.2:c.4022G>A	XP_011539518.1:p.Gly1341Asp
XM_011541217.2:c.4022G>A	XP_011539519.1:p.Gly1341Asp
XM_011541218.2:c.4022G>A	XP_011539520.1:p.Gly1341Asp
XM_017000996.1:c.3977G>A	XP_016856485.1:p.Gly1326Asp
XM_017000997.1:c.4022G>A	XP_016856486.1:p.Gly1341Asp
XM_017000999.1:c.3494G>A	XP_016856488.1:p.Gly1165Asp
XM_017001000.2:c.3494G>A	XP_016856489.1:p.Gly1165Asp
XM_017001001.1:c.3224G>A	XP_016856490.1:p.Gly1075Asp
XM_017001003.1:c.2483G>A	XP_016856492.1:p.Gly828Asp
XR_001737114.1:n.3888G>A
XR_001737115.1:n.3873G>A
NM_015102.5:c.4022G>A MANE Select	NP_055917.1:p.Gly1341Asp
NM_001291593.2:c.2483G>A	NP_001278522.1:p.Gly828Asp
NM_001291594.2:c.2486G>A	NP_001278523.1:p.Gly829Asp
NR_111987.2:n.4789G>A