Canonical Allele Identifier: CA338048898

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923990T>A (hg19) ; chr1:g.5863930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863930T>A , CM000663.2:g.5863930T>A	GRCh38
NC_000001.10:g.5923990T>A , CM000663.1:g.5923990T>A	GRCh37
NC_000001.9:g.5846577T>A	NCBI36
NG_011724.2:g.133542A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4100A>T MANE Select	ENSP00000367398.4:p.Asp1367Val
ENST00000378156.8:c.4100A>T	ENSP00000367398.4:p.Asp1367Val
ENST00000378161.5:n.3251A>T
ENST00000378169.7:c.*3001A>T	ENSP00000367411.3:n.*3001A>T
ENST00000460696.1:n.2848A>T
ENST00000478423.6:n.3832A>T
ENST00000489180.6:c.*1911A>T	ENSP00000423747.1:n.*1911A>T
NM_001291593.1:c.2561A>T	NP_001278522.1:p.Asp854Val
NM_001291594.1:c.2564A>T	NP_001278523.1:p.Asp855Val
NM_015102.4:c.4100A>T	NP_055917.1:p.Asp1367Val
NR_111987.1:n.4915A>T
XM_006710563.2:c.4100A>T	XP_006710626.1:p.Asp1367Val
XM_006710565.2:c.4100A>T	XP_006710628.1:p.Asp1367Val
XM_011541213.1:c.4097A>T	XP_011539515.1:p.Asp1366Val
XM_011541214.1:c.4058A>T	XP_011539516.1:p.Asp1353Val
XM_011541215.1:c.3989A>T	XP_011539517.1:p.Asp1330Val
XM_011541216.1:c.4100A>T	XP_011539518.1:p.Asp1367Val
XM_011541217.1:c.4100A>T	XP_011539519.1:p.Asp1367Val
XM_011541218.1:c.4100A>T	XP_011539520.1:p.Asp1367Val
XM_011541219.1:c.4046A>T	XP_011539521.1:p.Asp1349Val
XM_006710563.3:c.4100A>T	XP_006710626.1:p.Asp1367Val
XM_011541216.2:c.4100A>T	XP_011539518.1:p.Asp1367Val
XM_011541217.2:c.4100A>T	XP_011539519.1:p.Asp1367Val
XM_011541218.2:c.4100A>T	XP_011539520.1:p.Asp1367Val
XM_017000996.1:c.4055A>T	XP_016856485.1:p.Asp1352Val
XM_017000997.1:c.4100A>T	XP_016856486.1:p.Asp1367Val
XM_017000999.1:c.3572A>T	XP_016856488.1:p.Asp1191Val
XM_017001000.2:c.3572A>T	XP_016856489.1:p.Asp1191Val
XM_017001001.1:c.3302A>T	XP_016856490.1:p.Asp1101Val
XM_017001003.1:c.2561A>T	XP_016856492.1:p.Asp854Val
XR_001737114.1:n.3966A>T
XR_001737115.1:n.3951A>T
NM_015102.5:c.4100A>T MANE Select	NP_055917.1:p.Asp1367Val
NM_001291593.2:c.2561A>T	NP_001278522.1:p.Asp854Val
NM_001291594.2:c.2564A>T	NP_001278523.1:p.Asp855Val
NR_111987.2:n.4867A>T