Canonical Allele Identifier: CA415787013

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 1120880
• ClinVar RCV Id: RCV001450959
• dbSNP Id: rs2100373320
• MyVariant Identifiers: chr1:g.5924025G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863965G>A , CM000663.2:g.5863965G>A	GRCh38
NC_000001.10:g.5924025G>A , CM000663.1:g.5924025G>A	GRCh37
NC_000001.9:g.5846612G>A	NCBI36
NG_011724.2:g.133507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4065C>T MANE Select	ENSP00000367398.4:p.Pro1355=
ENST00000378156.8:c.4065C>T	ENSP00000367398.4:p.Pro1355=
ENST00000378161.5:n.3216C>T
ENST00000378169.7:c.*2966C>T	ENSP00000367411.3:n.*2966C>T
ENST00000460696.1:n.2813C>T
ENST00000478423.6:n.3797C>T
ENST00000489180.6:c.*1876C>T	ENSP00000423747.1:n.*1876C>T
NM_001291593.1:c.2526C>T	NP_001278522.1:p.Pro842=
NM_001291594.1:c.2529C>T	NP_001278523.1:p.Pro843=
NM_015102.4:c.4065C>T	NP_055917.1:p.Pro1355=
NR_111987.1:n.4880C>T
XM_006710563.2:c.4065C>T	XP_006710626.1:p.Pro1355=
XM_006710565.2:c.4065C>T	XP_006710628.1:p.Pro1355=
XM_011541213.1:c.4062C>T	XP_011539515.1:p.Pro1354=
XM_011541214.1:c.4023C>T	XP_011539516.1:p.Pro1341=
XM_011541215.1:c.3954C>T	XP_011539517.1:p.Pro1318=
XM_011541216.1:c.4065C>T	XP_011539518.1:p.Pro1355=
XM_011541217.1:c.4065C>T	XP_011539519.1:p.Pro1355=
XM_011541218.1:c.4065C>T	XP_011539520.1:p.Pro1355=
XM_011541219.1:c.4011C>T	XP_011539521.1:p.Pro1337=
XM_006710563.3:c.4065C>T	XP_006710626.1:p.Pro1355=
XM_011541216.2:c.4065C>T	XP_011539518.1:p.Pro1355=
XM_011541217.2:c.4065C>T	XP_011539519.1:p.Pro1355=
XM_011541218.2:c.4065C>T	XP_011539520.1:p.Pro1355=
XM_017000996.1:c.4020C>T	XP_016856485.1:p.Pro1340=
XM_017000997.1:c.4065C>T	XP_016856486.1:p.Pro1355=
XM_017000999.1:c.3537C>T	XP_016856488.1:p.Pro1179=
XM_017001000.2:c.3537C>T	XP_016856489.1:p.Pro1179=
XM_017001001.1:c.3267C>T	XP_016856490.1:p.Pro1089=
XM_017001003.1:c.2526C>T	XP_016856492.1:p.Pro842=
XR_001737114.1:n.3931C>T
XR_001737115.1:n.3916C>T
NM_015102.5:c.4065C>T MANE Select	NP_055917.1:p.Pro1355=
NM_001291593.2:c.2526C>T	NP_001278522.1:p.Pro842=
NM_001291594.2:c.2529C>T	NP_001278523.1:p.Pro843=
NR_111987.2:n.4832C>T