Canonical Allele Identifier: CA645511698

Gene: NPHP4

Linked Data

• dbSNP Id: rs1640901507
• COSMIC: COSM6199534

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863886A>C , CM000663.2:g.5863886A>C	GRCh38
NC_000001.10:g.5923946A>C , CM000663.1:g.5923946A>C	GRCh37
NC_000001.9:g.5846533A>C	NCBI36
NG_011724.2:g.133586T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4140+4T>G MANE Select	ENSP00000367398.4:n.4140+4T>G
ENST00000378156.8:c.4140+4T>G	ENSP00000367398.4:n.4140+4T>G
ENST00000378161.5:n.3295T>G
ENST00000378169.7:c.*3041+4T>G	ENSP00000367411.3:n.*3041+4T>G
ENST00000460696.1:n.2892T>G
ENST00000478423.6:n.3872+4T>G
ENST00000489180.6:c.*1951+4T>G	ENSP00000423747.1:n.*1951+4T>G
NM_001291593.1:c.2601+4T>G	NP_001278522.1:n.2601+4T>G
NM_001291594.1:c.2604+4T>G	NP_001278523.1:n.2604+4T>G
NM_015102.4:c.4140+4T>G	NP_055917.1:n.4140+4T>G
NR_111987.1:n.4955+4T>G
XM_006710563.2:c.4140+4T>G	XP_006710626.1:n.4140+4T>G
XM_006710565.2:c.4140+4T>G	XP_006710628.1:n.4140+4T>G
XM_011541213.1:c.4137+4T>G	XP_011539515.1:n.4137+4T>G
XM_011541214.1:c.4098+4T>G	XP_011539516.1:n.4098+4T>G
XM_011541215.1:c.4029+4T>G	XP_011539517.1:n.4029+4T>G
XM_011541216.1:c.4140+4T>G	XP_011539518.1:n.4140+4T>G
XM_011541217.1:c.4140+4T>G	XP_011539519.1:n.4140+4T>G
XM_011541218.1:c.4140+4T>G	XP_011539520.1:n.4140+4T>G
XM_011541219.1:c.4086+4T>G	XP_011539521.1:n.4086+4T>G
XM_006710563.3:c.4140+4T>G	XP_006710626.1:n.4140+4T>G
XM_011541216.2:c.4140+4T>G	XP_011539518.1:n.4140+4T>G
XM_011541217.2:c.4140+4T>G	XP_011539519.1:n.4140+4T>G
XM_011541218.2:c.4140+4T>G	XP_011539520.1:n.4140+4T>G
XM_017000996.1:c.4095+4T>G	XP_016856485.1:n.4095+4T>G
XM_017000997.1:c.4140+4T>G	XP_016856486.1:n.4140+4T>G
XM_017000999.1:c.3612+4T>G	XP_016856488.1:n.3612+4T>G
XM_017001000.2:c.3612+4T>G	XP_016856489.1:n.3612+4T>G
XM_017001001.1:c.3342+4T>G	XP_016856490.1:n.3342+4T>G
XM_017001003.1:c.2601+4T>G	XP_016856492.1:n.2601+4T>G
XR_001737114.1:n.4006+4T>G
XR_001737115.1:n.3991+4T>G
NM_015102.5:c.4140+4T>G MANE Select	NP_055917.1:n.4140+4T>G
NM_001291593.2:c.2601+4T>G	NP_001278522.1:n.2601+4T>G
NM_001291594.2:c.2604+4T>G	NP_001278523.1:n.2604+4T>G
NR_111987.2:n.4907+4T>G