Canonical Allele Identifier: CA415786950

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923959G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863899G>A , CM000663.2:g.5863899G>A	GRCh38
NC_000001.10:g.5923959G>A , CM000663.1:g.5923959G>A	GRCh37
NC_000001.9:g.5846546G>A	NCBI36
NG_011724.2:g.133573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4131C>T MANE Select	ENSP00000367398.4:p.Asp1377=
ENST00000378156.8:c.4131C>T	ENSP00000367398.4:p.Asp1377=
ENST00000378161.5:n.3282C>T
ENST00000378169.7:c.*3032C>T	ENSP00000367411.3:n.*3032C>T
ENST00000460696.1:n.2879C>T
ENST00000478423.6:n.3863C>T
ENST00000489180.6:c.*1942C>T	ENSP00000423747.1:n.*1942C>T
NM_001291593.1:c.2592C>T	NP_001278522.1:p.Asp864=
NM_001291594.1:c.2595C>T	NP_001278523.1:p.Asp865=
NM_015102.4:c.4131C>T	NP_055917.1:p.Asp1377=
NR_111987.1:n.4946C>T
XM_006710563.2:c.4131C>T	XP_006710626.1:p.Asp1377=
XM_006710565.2:c.4131C>T	XP_006710628.1:p.Asp1377=
XM_011541213.1:c.4128C>T	XP_011539515.1:p.Asp1376=
XM_011541214.1:c.4089C>T	XP_011539516.1:p.Asp1363=
XM_011541215.1:c.4020C>T	XP_011539517.1:p.Asp1340=
XM_011541216.1:c.4131C>T	XP_011539518.1:p.Asp1377=
XM_011541217.1:c.4131C>T	XP_011539519.1:p.Asp1377=
XM_011541218.1:c.4131C>T	XP_011539520.1:p.Asp1377=
XM_011541219.1:c.4077C>T	XP_011539521.1:p.Asp1359=
XM_006710563.3:c.4131C>T	XP_006710626.1:p.Asp1377=
XM_011541216.2:c.4131C>T	XP_011539518.1:p.Asp1377=
XM_011541217.2:c.4131C>T	XP_011539519.1:p.Asp1377=
XM_011541218.2:c.4131C>T	XP_011539520.1:p.Asp1377=
XM_017000996.1:c.4086C>T	XP_016856485.1:p.Asp1362=
XM_017000997.1:c.4131C>T	XP_016856486.1:p.Asp1377=
XM_017000999.1:c.3603C>T	XP_016856488.1:p.Asp1201=
XM_017001000.2:c.3603C>T	XP_016856489.1:p.Asp1201=
XM_017001001.1:c.3333C>T	XP_016856490.1:p.Asp1111=
XM_017001003.1:c.2592C>T	XP_016856492.1:p.Asp864=
XR_001737114.1:n.3997C>T
XR_001737115.1:n.3982C>T
NM_015102.5:c.4131C>T MANE Select	NP_055917.1:p.Asp1377=
NM_001291593.2:c.2592C>T	NP_001278522.1:p.Asp864=
NM_001291594.2:c.2595C>T	NP_001278523.1:p.Asp865=
NR_111987.2:n.4898C>T