Canonical Allele Identifier: CA553364

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 1977132
• ClinVar RCV Id: RCV002750622
• dbSNP Id: rs754968410
• ExAC: 1:5924017 G / A
• gnomAD v2: 1-5924017-G-A
• gnomAD v3: 1-5863957-G-A
• gnomAD v4: 1-5863957-G-A
• MyVariant Identifiers: chr1:g.5924017G>A (hg19) ; chr1:g.5863957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863957G>A , CM000663.2:g.5863957G>A	GRCh38
NC_000001.10:g.5924017G>A , CM000663.1:g.5924017G>A	GRCh37
NC_000001.9:g.5846604G>A	NCBI36
NG_011724.2:g.133515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4073C>T MANE Select	ENSP00000367398.4:p.Ser1358Phe
ENST00000378156.8:c.4073C>T	ENSP00000367398.4:p.Ser1358Phe
ENST00000378161.5:n.3224C>T
ENST00000378169.7:c.*2974C>T	ENSP00000367411.3:n.*2974C>T
ENST00000460696.1:n.2821C>T
ENST00000478423.6:n.3805C>T
ENST00000489180.6:c.*1884C>T	ENSP00000423747.1:n.*1884C>T
NM_001291593.1:c.2534C>T	NP_001278522.1:p.Ser845Phe
NM_001291594.1:c.2537C>T	NP_001278523.1:p.Ser846Phe
NM_015102.4:c.4073C>T	NP_055917.1:p.Ser1358Phe
NR_111987.1:n.4888C>T
XM_006710563.2:c.4073C>T	XP_006710626.1:p.Ser1358Phe
XM_006710565.2:c.4073C>T	XP_006710628.1:p.Ser1358Phe
XM_011541213.1:c.4070C>T	XP_011539515.1:p.Ser1357Phe
XM_011541214.1:c.4031C>T	XP_011539516.1:p.Ser1344Phe
XM_011541215.1:c.3962C>T	XP_011539517.1:p.Ser1321Phe
XM_011541216.1:c.4073C>T	XP_011539518.1:p.Ser1358Phe
XM_011541217.1:c.4073C>T	XP_011539519.1:p.Ser1358Phe
XM_011541218.1:c.4073C>T	XP_011539520.1:p.Ser1358Phe
XM_011541219.1:c.4019C>T	XP_011539521.1:p.Ser1340Phe
XM_006710563.3:c.4073C>T	XP_006710626.1:p.Ser1358Phe
XM_011541216.2:c.4073C>T	XP_011539518.1:p.Ser1358Phe
XM_011541217.2:c.4073C>T	XP_011539519.1:p.Ser1358Phe
XM_011541218.2:c.4073C>T	XP_011539520.1:p.Ser1358Phe
XM_017000996.1:c.4028C>T	XP_016856485.1:p.Ser1343Phe
XM_017000997.1:c.4073C>T	XP_016856486.1:p.Ser1358Phe
XM_017000999.1:c.3545C>T	XP_016856488.1:p.Ser1182Phe
XM_017001000.2:c.3545C>T	XP_016856489.1:p.Ser1182Phe
XM_017001001.1:c.3275C>T	XP_016856490.1:p.Ser1092Phe
XM_017001003.1:c.2534C>T	XP_016856492.1:p.Ser845Phe
XR_001737114.1:n.3939C>T
XR_001737115.1:n.3924C>T
NM_015102.5:c.4073C>T MANE Select	NP_055917.1:p.Ser1358Phe
NM_001291593.2:c.2534C>T	NP_001278522.1:p.Ser845Phe
NM_001291594.2:c.2537C>T	NP_001278523.1:p.Ser846Phe
NR_111987.2:n.4840C>T