Canonical Allele Identifier: CA553342

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 2894756
• ClinVar RCV Id: RCV003748812
• dbSNP Id: rs531690737
• ExAC: 1:5923934 C / T
• gnomAD v2: 1-5923934-C-T
• gnomAD v3: 1-5863874-C-T
• gnomAD v4: 1-5863874-C-T
• MyVariant Identifiers: chr1:g.5923934C>T (hg19) ; chr1:g.5863874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863874C>T , CM000663.2:g.5863874C>T	GRCh38
NC_000001.10:g.5923934C>T , CM000663.1:g.5923934C>T	GRCh37
NC_000001.9:g.5846521C>T	NCBI36
NG_011724.2:g.133598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4140+16G>A MANE Select	ENSP00000367398.4:n.4140+16G>A
ENST00000378156.8:c.4140+16G>A	ENSP00000367398.4:n.4140+16G>A
ENST00000378161.5:n.3307G>A
ENST00000378169.7:c.*3041+16G>A	ENSP00000367411.3:n.*3041+16G>A
ENST00000460696.1:n.2904G>A
ENST00000478423.6:n.3872+16G>A
ENST00000489180.6:c.*1951+16G>A	ENSP00000423747.1:n.*1951+16G>A
NM_001291593.1:c.2601+16G>A	NP_001278522.1:n.2601+16G>A
NM_001291594.1:c.2604+16G>A	NP_001278523.1:n.2604+16G>A
NM_015102.4:c.4140+16G>A	NP_055917.1:n.4140+16G>A
NR_111987.1:n.4955+16G>A
XM_006710563.2:c.4140+16G>A	XP_006710626.1:n.4140+16G>A
XM_006710565.2:c.4140+16G>A	XP_006710628.1:n.4140+16G>A
XM_011541213.1:c.4137+16G>A	XP_011539515.1:n.4137+16G>A
XM_011541214.1:c.4098+16G>A	XP_011539516.1:n.4098+16G>A
XM_011541215.1:c.4029+16G>A	XP_011539517.1:n.4029+16G>A
XM_011541216.1:c.4140+16G>A	XP_011539518.1:n.4140+16G>A
XM_011541217.1:c.4140+16G>A	XP_011539519.1:n.4140+16G>A
XM_011541218.1:c.4140+16G>A	XP_011539520.1:n.4140+16G>A
XM_011541219.1:c.4086+16G>A	XP_011539521.1:n.4086+16G>A
XM_006710563.3:c.4140+16G>A	XP_006710626.1:n.4140+16G>A
XM_011541216.2:c.4140+16G>A	XP_011539518.1:n.4140+16G>A
XM_011541217.2:c.4140+16G>A	XP_011539519.1:n.4140+16G>A
XM_011541218.2:c.4140+16G>A	XP_011539520.1:n.4140+16G>A
XM_017000996.1:c.4095+16G>A	XP_016856485.1:n.4095+16G>A
XM_017000997.1:c.4140+16G>A	XP_016856486.1:n.4140+16G>A
XM_017000999.1:c.3612+16G>A	XP_016856488.1:n.3612+16G>A
XM_017001000.2:c.3612+16G>A	XP_016856489.1:n.3612+16G>A
XM_017001001.1:c.3342+16G>A	XP_016856490.1:n.3342+16G>A
XM_017001003.1:c.2601+16G>A	XP_016856492.1:n.2601+16G>A
XR_001737114.1:n.4006+16G>A
XR_001737115.1:n.3991+16G>A
NM_015102.5:c.4140+16G>A MANE Select	NP_055917.1:n.4140+16G>A
NM_001291593.2:c.2601+16G>A	NP_001278522.1:n.2601+16G>A
NM_001291594.2:c.2604+16G>A	NP_001278523.1:n.2604+16G>A
NR_111987.2:n.4907+16G>A