Canonical Allele Identifier: CA553344

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 1136281
• ClinVar RCV Id: RCV001471857
• dbSNP Id: rs750192016
• ExAC: 1:5923938 G / A
• gnomAD v2: 1-5923938-G-A
• gnomAD v3: 1-5863878-G-A
• gnomAD v4: 1-5863878-G-A
• MyVariant Identifiers: chr1:g.5923938G>A (hg19) ; chr1:g.5863878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863878G>A , CM000663.2:g.5863878G>A	GRCh38
NC_000001.10:g.5923938G>A , CM000663.1:g.5923938G>A	GRCh37
NC_000001.9:g.5846525G>A	NCBI36
NG_011724.2:g.133594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4140+12C>T MANE Select	ENSP00000367398.4:n.4140+12C>T
ENST00000378156.8:c.4140+12C>T	ENSP00000367398.4:n.4140+12C>T
ENST00000378161.5:n.3303C>T
ENST00000378169.7:c.*3041+12C>T	ENSP00000367411.3:n.*3041+12C>T
ENST00000460696.1:n.2900C>T
ENST00000478423.6:n.3872+12C>T
ENST00000489180.6:c.*1951+12C>T	ENSP00000423747.1:n.*1951+12C>T
NM_001291593.1:c.2601+12C>T	NP_001278522.1:n.2601+12C>T
NM_001291594.1:c.2604+12C>T	NP_001278523.1:n.2604+12C>T
NM_015102.4:c.4140+12C>T	NP_055917.1:n.4140+12C>T
NR_111987.1:n.4955+12C>T
XM_006710563.2:c.4140+12C>T	XP_006710626.1:n.4140+12C>T
XM_006710565.2:c.4140+12C>T	XP_006710628.1:n.4140+12C>T
XM_011541213.1:c.4137+12C>T	XP_011539515.1:n.4137+12C>T
XM_011541214.1:c.4098+12C>T	XP_011539516.1:n.4098+12C>T
XM_011541215.1:c.4029+12C>T	XP_011539517.1:n.4029+12C>T
XM_011541216.1:c.4140+12C>T	XP_011539518.1:n.4140+12C>T
XM_011541217.1:c.4140+12C>T	XP_011539519.1:n.4140+12C>T
XM_011541218.1:c.4140+12C>T	XP_011539520.1:n.4140+12C>T
XM_011541219.1:c.4086+12C>T	XP_011539521.1:n.4086+12C>T
XM_006710563.3:c.4140+12C>T	XP_006710626.1:n.4140+12C>T
XM_011541216.2:c.4140+12C>T	XP_011539518.1:n.4140+12C>T
XM_011541217.2:c.4140+12C>T	XP_011539519.1:n.4140+12C>T
XM_011541218.2:c.4140+12C>T	XP_011539520.1:n.4140+12C>T
XM_017000996.1:c.4095+12C>T	XP_016856485.1:n.4095+12C>T
XM_017000997.1:c.4140+12C>T	XP_016856486.1:n.4140+12C>T
XM_017000999.1:c.3612+12C>T	XP_016856488.1:n.3612+12C>T
XM_017001000.2:c.3612+12C>T	XP_016856489.1:n.3612+12C>T
XM_017001001.1:c.3342+12C>T	XP_016856490.1:n.3342+12C>T
XM_017001003.1:c.2601+12C>T	XP_016856492.1:n.2601+12C>T
XR_001737114.1:n.4006+12C>T
XR_001737115.1:n.3991+12C>T
NM_015102.5:c.4140+12C>T MANE Select	NP_055917.1:n.4140+12C>T
NM_001291593.2:c.2601+12C>T	NP_001278522.1:n.2601+12C>T
NM_001291594.2:c.2604+12C>T	NP_001278523.1:n.2604+12C>T
NR_111987.2:n.4907+12C>T