Canonical Allele Identifier: CA338049150

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924053A>T (hg19) ; chr1:g.5863993A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863993A>T , CM000663.2:g.5863993A>T	GRCh38
NC_000001.10:g.5924053A>T , CM000663.1:g.5924053A>T	GRCh37
NC_000001.9:g.5846640A>T	NCBI36
NG_011724.2:g.133479T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4037T>A MANE Select	ENSP00000367398.4:p.Val1346Asp
ENST00000378156.8:c.4037T>A	ENSP00000367398.4:p.Val1346Asp
ENST00000378161.5:n.3188T>A
ENST00000378169.7:c.*2938T>A	ENSP00000367411.3:n.*2938T>A
ENST00000460696.1:n.2785T>A
ENST00000478423.6:n.3769T>A
ENST00000489180.6:c.*1848T>A	ENSP00000423747.1:n.*1848T>A
NM_001291593.1:c.2498T>A	NP_001278522.1:p.Val833Asp
NM_001291594.1:c.2501T>A	NP_001278523.1:p.Val834Asp
NM_015102.4:c.4037T>A	NP_055917.1:p.Val1346Asp
NR_111987.1:n.4852T>A
XM_006710563.2:c.4037T>A	XP_006710626.1:p.Val1346Asp
XM_006710565.2:c.4037T>A	XP_006710628.1:p.Val1346Asp
XM_011541213.1:c.4034T>A	XP_011539515.1:p.Val1345Asp
XM_011541214.1:c.3995T>A	XP_011539516.1:p.Val1332Asp
XM_011541215.1:c.3926T>A	XP_011539517.1:p.Val1309Asp
XM_011541216.1:c.4037T>A	XP_011539518.1:p.Val1346Asp
XM_011541217.1:c.4037T>A	XP_011539519.1:p.Val1346Asp
XM_011541218.1:c.4037T>A	XP_011539520.1:p.Val1346Asp
XM_011541219.1:c.3983T>A	XP_011539521.1:p.Val1328Asp
XM_006710563.3:c.4037T>A	XP_006710626.1:p.Val1346Asp
XM_011541216.2:c.4037T>A	XP_011539518.1:p.Val1346Asp
XM_011541217.2:c.4037T>A	XP_011539519.1:p.Val1346Asp
XM_011541218.2:c.4037T>A	XP_011539520.1:p.Val1346Asp
XM_017000996.1:c.3992T>A	XP_016856485.1:p.Val1331Asp
XM_017000997.1:c.4037T>A	XP_016856486.1:p.Val1346Asp
XM_017000999.1:c.3509T>A	XP_016856488.1:p.Val1170Asp
XM_017001000.2:c.3509T>A	XP_016856489.1:p.Val1170Asp
XM_017001001.1:c.3239T>A	XP_016856490.1:p.Val1080Asp
XM_017001003.1:c.2498T>A	XP_016856492.1:p.Val833Asp
XR_001737114.1:n.3903T>A
XR_001737115.1:n.3888T>A
NM_015102.5:c.4037T>A MANE Select	NP_055917.1:p.Val1346Asp
NM_001291593.2:c.2498T>A	NP_001278522.1:p.Val833Asp
NM_001291594.2:c.2501T>A	NP_001278523.1:p.Val834Asp
NR_111987.2:n.4804T>A