Canonical Allele Identifier: CA521016943

Gene: NPHP4

Linked Data

• dbSNP Id: rs1179236787
• gnomAD v2: 1-5924126-C-A
• gnomAD v4: 1-5864066-C-A
• MyVariant Identifiers: chr1:g.5924126C>A (hg19) ; chr1:g.5864066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864066C>A , CM000663.2:g.5864066C>A	GRCh38
NC_000001.10:g.5924126C>A , CM000663.1:g.5924126C>A	GRCh37
NC_000001.9:g.5846713C>A	NCBI36
NG_011724.2:g.133406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-33G>T MANE Select	ENSP00000367398.4:n.3997-33G>T
ENST00000378156.8:c.3997-33G>T	ENSP00000367398.4:n.3997-33G>T
ENST00000378161.5:n.3115G>T
ENST00000378169.7:c.*2898-33G>T	ENSP00000367411.3:n.*2898-33G>T
ENST00000460696.1:n.2745-33G>T
ENST00000478423.6:n.3729-33G>T
ENST00000489180.6:c.*1808-33G>T	ENSP00000423747.1:n.*1808-33G>T
NM_001291593.1:c.2458-33G>T	NP_001278522.1:n.2458-33G>T
NM_001291594.1:c.2461-33G>T	NP_001278523.1:n.2461-33G>T
NM_015102.4:c.3997-33G>T	NP_055917.1:n.3997-33G>T
NR_111987.1:n.4812-33G>T
XM_006710563.2:c.3997-33G>T	XP_006710626.1:n.3997-33G>T
XM_006710565.2:c.3997-33G>T	XP_006710628.1:n.3997-33G>T
XM_011541213.1:c.3994-33G>T	XP_011539515.1:n.3994-33G>T
XM_011541214.1:c.3955-33G>T	XP_011539516.1:n.3955-33G>T
XM_011541215.1:c.3886-33G>T	XP_011539517.1:n.3886-33G>T
XM_011541216.1:c.3997-33G>T	XP_011539518.1:n.3997-33G>T
XM_011541217.1:c.3997-33G>T	XP_011539519.1:n.3997-33G>T
XM_011541218.1:c.3997-33G>T	XP_011539520.1:n.3997-33G>T
XM_011541219.1:c.3943-33G>T	XP_011539521.1:n.3943-33G>T
XM_006710563.3:c.3997-33G>T	XP_006710626.1:n.3997-33G>T
XM_011541216.2:c.3997-33G>T	XP_011539518.1:n.3997-33G>T
XM_011541217.2:c.3997-33G>T	XP_011539519.1:n.3997-33G>T
XM_011541218.2:c.3997-33G>T	XP_011539520.1:n.3997-33G>T
XM_017000996.1:c.3952-33G>T	XP_016856485.1:n.3952-33G>T
XM_017000997.1:c.3997-33G>T	XP_016856486.1:n.3997-33G>T
XM_017000999.1:c.3469-33G>T	XP_016856488.1:n.3469-33G>T
XM_017001000.2:c.3469-33G>T	XP_016856489.1:n.3469-33G>T
XM_017001001.1:c.3199-33G>T	XP_016856490.1:n.3199-33G>T
XM_017001003.1:c.2458-33G>T	XP_016856492.1:n.2458-33G>T
XR_001737114.1:n.3863-33G>T
XR_001737115.1:n.3848-33G>T
NM_015102.5:c.3997-33G>T MANE Select	NP_055917.1:n.3997-33G>T
NM_001291593.2:c.2458-33G>T	NP_001278522.1:n.2458-33G>T
NM_001291594.2:c.2461-33G>T	NP_001278523.1:n.2461-33G>T
NR_111987.2:n.4764-33G>T