Canonical Allele Identifier: CA338048815

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923967T>A (hg19) ; chr1:g.5863907T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863907T>A , CM000663.2:g.5863907T>A	GRCh38
NC_000001.10:g.5923967T>A , CM000663.1:g.5923967T>A	GRCh37
NC_000001.9:g.5846554T>A	NCBI36
NG_011724.2:g.133565A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4123A>T MANE Select	ENSP00000367398.4:p.Arg1375Ter
ENST00000378156.8:c.4123A>T	ENSP00000367398.4:p.Arg1375Ter
ENST00000378161.5:n.3274A>T
ENST00000378169.7:c.*3024A>T	ENSP00000367411.3:n.*3024A>T
ENST00000460696.1:n.2871A>T
ENST00000478423.6:n.3855A>T
ENST00000489180.6:c.*1934A>T	ENSP00000423747.1:n.*1934A>T
NM_001291593.1:c.2584A>T	NP_001278522.1:p.Arg862Ter
NM_001291594.1:c.2587A>T	NP_001278523.1:p.Arg863Ter
NM_015102.4:c.4123A>T	NP_055917.1:p.Arg1375Ter
NR_111987.1:n.4938A>T
XM_006710563.2:c.4123A>T	XP_006710626.1:p.Arg1375Ter
XM_006710565.2:c.4123A>T	XP_006710628.1:p.Arg1375Ter
XM_011541213.1:c.4120A>T	XP_011539515.1:p.Arg1374Ter
XM_011541214.1:c.4081A>T	XP_011539516.1:p.Arg1361Ter
XM_011541215.1:c.4012A>T	XP_011539517.1:p.Arg1338Ter
XM_011541216.1:c.4123A>T	XP_011539518.1:p.Arg1375Ter
XM_011541217.1:c.4123A>T	XP_011539519.1:p.Arg1375Ter
XM_011541218.1:c.4123A>T	XP_011539520.1:p.Arg1375Ter
XM_011541219.1:c.4069A>T	XP_011539521.1:p.Arg1357Ter
XM_006710563.3:c.4123A>T	XP_006710626.1:p.Arg1375Ter
XM_011541216.2:c.4123A>T	XP_011539518.1:p.Arg1375Ter
XM_011541217.2:c.4123A>T	XP_011539519.1:p.Arg1375Ter
XM_011541218.2:c.4123A>T	XP_011539520.1:p.Arg1375Ter
XM_017000996.1:c.4078A>T	XP_016856485.1:p.Arg1360Ter
XM_017000997.1:c.4123A>T	XP_016856486.1:p.Arg1375Ter
XM_017000999.1:c.3595A>T	XP_016856488.1:p.Arg1199Ter
XM_017001000.2:c.3595A>T	XP_016856489.1:p.Arg1199Ter
XM_017001001.1:c.3325A>T	XP_016856490.1:p.Arg1109Ter
XM_017001003.1:c.2584A>T	XP_016856492.1:p.Arg862Ter
XR_001737114.1:n.3989A>T
XR_001737115.1:n.3974A>T
NM_015102.5:c.4123A>T MANE Select	NP_055917.1:p.Arg1375Ter
NM_001291593.2:c.2584A>T	NP_001278522.1:p.Arg862Ter
NM_001291594.2:c.2587A>T	NP_001278523.1:p.Arg863Ter
NR_111987.2:n.4890A>T