Canonical Allele Identifier: CA338048783

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5863900-T-A
• MyVariant Identifiers: chr1:g.5923960T>A (hg19) ; chr1:g.5863900T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863900T>A , CM000663.2:g.5863900T>A	GRCh38
NC_000001.10:g.5923960T>A , CM000663.1:g.5923960T>A	GRCh37
NC_000001.9:g.5846547T>A	NCBI36
NG_011724.2:g.133572A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4130A>T MANE Select	ENSP00000367398.4:p.Asp1377Val
ENST00000378156.8:c.4130A>T	ENSP00000367398.4:p.Asp1377Val
ENST00000378161.5:n.3281A>T
ENST00000378169.7:c.*3031A>T	ENSP00000367411.3:n.*3031A>T
ENST00000460696.1:n.2878A>T
ENST00000478423.6:n.3862A>T
ENST00000489180.6:c.*1941A>T	ENSP00000423747.1:n.*1941A>T
NM_001291593.1:c.2591A>T	NP_001278522.1:p.Asp864Val
NM_001291594.1:c.2594A>T	NP_001278523.1:p.Asp865Val
NM_015102.4:c.4130A>T	NP_055917.1:p.Asp1377Val
NR_111987.1:n.4945A>T
XM_006710563.2:c.4130A>T	XP_006710626.1:p.Asp1377Val
XM_006710565.2:c.4130A>T	XP_006710628.1:p.Asp1377Val
XM_011541213.1:c.4127A>T	XP_011539515.1:p.Asp1376Val
XM_011541214.1:c.4088A>T	XP_011539516.1:p.Asp1363Val
XM_011541215.1:c.4019A>T	XP_011539517.1:p.Asp1340Val
XM_011541216.1:c.4130A>T	XP_011539518.1:p.Asp1377Val
XM_011541217.1:c.4130A>T	XP_011539519.1:p.Asp1377Val
XM_011541218.1:c.4130A>T	XP_011539520.1:p.Asp1377Val
XM_011541219.1:c.4076A>T	XP_011539521.1:p.Asp1359Val
XM_006710563.3:c.4130A>T	XP_006710626.1:p.Asp1377Val
XM_011541216.2:c.4130A>T	XP_011539518.1:p.Asp1377Val
XM_011541217.2:c.4130A>T	XP_011539519.1:p.Asp1377Val
XM_011541218.2:c.4130A>T	XP_011539520.1:p.Asp1377Val
XM_017000996.1:c.4085A>T	XP_016856485.1:p.Asp1362Val
XM_017000997.1:c.4130A>T	XP_016856486.1:p.Asp1377Val
XM_017000999.1:c.3602A>T	XP_016856488.1:p.Asp1201Val
XM_017001000.2:c.3602A>T	XP_016856489.1:p.Asp1201Val
XM_017001001.1:c.3332A>T	XP_016856490.1:p.Asp1111Val
XM_017001003.1:c.2591A>T	XP_016856492.1:p.Asp864Val
XR_001737114.1:n.3996A>T
XR_001737115.1:n.3981A>T
NM_015102.5:c.4130A>T MANE Select	NP_055917.1:p.Asp1377Val
NM_001291593.2:c.2591A>T	NP_001278522.1:p.Asp864Val
NM_001291594.2:c.2594A>T	NP_001278523.1:p.Asp865Val
NR_111987.2:n.4897A>T