Canonical Allele Identifier: CA553372

Gene: NPHP4

Linked Data

• dbSNP Id: rs749663436
• ExAC: 1:5924058 C / T
• gnomAD v2: 1-5924058-C-T
• gnomAD v4: 1-5863998-C-T
• MyVariant Identifiers: chr1:g.5924058C>T (hg19) ; chr1:g.5863998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863998C>T , CM000663.2:g.5863998C>T	GRCh38
NC_000001.10:g.5924058C>T , CM000663.1:g.5924058C>T	GRCh37
NC_000001.9:g.5846645C>T	NCBI36
NG_011724.2:g.133474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4032G>A MANE Select	ENSP00000367398.4:p.Lys1344=
ENST00000378156.8:c.4032G>A	ENSP00000367398.4:p.Lys1344=
ENST00000378161.5:n.3183G>A
ENST00000378169.7:c.*2933G>A	ENSP00000367411.3:n.*2933G>A
ENST00000460696.1:n.2780G>A
ENST00000478423.6:n.3764G>A
ENST00000489180.6:c.*1843G>A	ENSP00000423747.1:n.*1843G>A
NM_001291593.1:c.2493G>A	NP_001278522.1:p.Lys831=
NM_001291594.1:c.2496G>A	NP_001278523.1:p.Lys832=
NM_015102.4:c.4032G>A	NP_055917.1:p.Lys1344=
NR_111987.1:n.4847G>A
XM_006710563.2:c.4032G>A	XP_006710626.1:p.Lys1344=
XM_006710565.2:c.4032G>A	XP_006710628.1:p.Lys1344=
XM_011541213.1:c.4029G>A	XP_011539515.1:p.Lys1343=
XM_011541214.1:c.3990G>A	XP_011539516.1:p.Lys1330=
XM_011541215.1:c.3921G>A	XP_011539517.1:p.Lys1307=
XM_011541216.1:c.4032G>A	XP_011539518.1:p.Lys1344=
XM_011541217.1:c.4032G>A	XP_011539519.1:p.Lys1344=
XM_011541218.1:c.4032G>A	XP_011539520.1:p.Lys1344=
XM_011541219.1:c.3978G>A	XP_011539521.1:p.Lys1326=
XM_006710563.3:c.4032G>A	XP_006710626.1:p.Lys1344=
XM_011541216.2:c.4032G>A	XP_011539518.1:p.Lys1344=
XM_011541217.2:c.4032G>A	XP_011539519.1:p.Lys1344=
XM_011541218.2:c.4032G>A	XP_011539520.1:p.Lys1344=
XM_017000996.1:c.3987G>A	XP_016856485.1:p.Lys1329=
XM_017000997.1:c.4032G>A	XP_016856486.1:p.Lys1344=
XM_017000999.1:c.3504G>A	XP_016856488.1:p.Lys1168=
XM_017001000.2:c.3504G>A	XP_016856489.1:p.Lys1168=
XM_017001001.1:c.3234G>A	XP_016856490.1:p.Lys1078=
XM_017001003.1:c.2493G>A	XP_016856492.1:p.Lys831=
XR_001737114.1:n.3898G>A
XR_001737115.1:n.3883G>A
NM_015102.5:c.4032G>A MANE Select	NP_055917.1:p.Lys1344=
NM_001291593.2:c.2493G>A	NP_001278522.1:p.Lys831=
NM_001291594.2:c.2496G>A	NP_001278523.1:p.Lys832=
NR_111987.2:n.4799G>A