Canonical Allele Identifier: CA338049073

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5863974-G-T
• MyVariant Identifiers: chr1:g.5924034G>T (hg19) ; chr1:g.5863974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863974G>T , CM000663.2:g.5863974G>T	GRCh38
NC_000001.10:g.5924034G>T , CM000663.1:g.5924034G>T	GRCh37
NC_000001.9:g.5846621G>T	NCBI36
NG_011724.2:g.133498C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4056C>A MANE Select	ENSP00000367398.4:p.Tyr1352Ter
ENST00000378156.8:c.4056C>A	ENSP00000367398.4:p.Tyr1352Ter
ENST00000378161.5:n.3207C>A
ENST00000378169.7:c.*2957C>A	ENSP00000367411.3:n.*2957C>A
ENST00000460696.1:n.2804C>A
ENST00000478423.6:n.3788C>A
ENST00000489180.6:c.*1867C>A	ENSP00000423747.1:n.*1867C>A
NM_001291593.1:c.2517C>A	NP_001278522.1:p.Tyr839Ter
NM_001291594.1:c.2520C>A	NP_001278523.1:p.Tyr840Ter
NM_015102.4:c.4056C>A	NP_055917.1:p.Tyr1352Ter
NR_111987.1:n.4871C>A
XM_006710563.2:c.4056C>A	XP_006710626.1:p.Tyr1352Ter
XM_006710565.2:c.4056C>A	XP_006710628.1:p.Tyr1352Ter
XM_011541213.1:c.4053C>A	XP_011539515.1:p.Tyr1351Ter
XM_011541214.1:c.4014C>A	XP_011539516.1:p.Tyr1338Ter
XM_011541215.1:c.3945C>A	XP_011539517.1:p.Tyr1315Ter
XM_011541216.1:c.4056C>A	XP_011539518.1:p.Tyr1352Ter
XM_011541217.1:c.4056C>A	XP_011539519.1:p.Tyr1352Ter
XM_011541218.1:c.4056C>A	XP_011539520.1:p.Tyr1352Ter
XM_011541219.1:c.4002C>A	XP_011539521.1:p.Tyr1334Ter
XM_006710563.3:c.4056C>A	XP_006710626.1:p.Tyr1352Ter
XM_011541216.2:c.4056C>A	XP_011539518.1:p.Tyr1352Ter
XM_011541217.2:c.4056C>A	XP_011539519.1:p.Tyr1352Ter
XM_011541218.2:c.4056C>A	XP_011539520.1:p.Tyr1352Ter
XM_017000996.1:c.4011C>A	XP_016856485.1:p.Tyr1337Ter
XM_017000997.1:c.4056C>A	XP_016856486.1:p.Tyr1352Ter
XM_017000999.1:c.3528C>A	XP_016856488.1:p.Tyr1176Ter
XM_017001000.2:c.3528C>A	XP_016856489.1:p.Tyr1176Ter
XM_017001001.1:c.3258C>A	XP_016856490.1:p.Tyr1086Ter
XM_017001003.1:c.2517C>A	XP_016856492.1:p.Tyr839Ter
XR_001737114.1:n.3922C>A
XR_001737115.1:n.3907C>A
NM_015102.5:c.4056C>A MANE Select	NP_055917.1:p.Tyr1352Ter
NM_001291593.2:c.2517C>A	NP_001278522.1:p.Tyr839Ter
NM_001291594.2:c.2520C>A	NP_001278523.1:p.Tyr840Ter
NR_111987.2:n.4823C>A