Canonical Allele Identifier: CA338048778

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5863898-A-T
• COSMIC: COSM3491347
• MyVariant Identifiers: chr1:g.5923958A>T (hg19) ; chr1:g.5863898A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863898A>T , CM000663.2:g.5863898A>T	GRCh38
NC_000001.10:g.5923958A>T , CM000663.1:g.5923958A>T	GRCh37
NC_000001.9:g.5846545A>T	NCBI36
NG_011724.2:g.133574T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4132T>A MANE Select	ENSP00000367398.4:p.Ser1378Thr
ENST00000378156.8:c.4132T>A	ENSP00000367398.4:p.Ser1378Thr
ENST00000378161.5:n.3283T>A
ENST00000378169.7:c.*3033T>A	ENSP00000367411.3:n.*3033T>A
ENST00000460696.1:n.2880T>A
ENST00000478423.6:n.3864T>A
ENST00000489180.6:c.*1943T>A	ENSP00000423747.1:n.*1943T>A
NM_001291593.1:c.2593T>A	NP_001278522.1:p.Ser865Thr
NM_001291594.1:c.2596T>A	NP_001278523.1:p.Ser866Thr
NM_015102.4:c.4132T>A	NP_055917.1:p.Ser1378Thr
NR_111987.1:n.4947T>A
XM_006710563.2:c.4132T>A	XP_006710626.1:p.Ser1378Thr
XM_006710565.2:c.4132T>A	XP_006710628.1:p.Ser1378Thr
XM_011541213.1:c.4129T>A	XP_011539515.1:p.Ser1377Thr
XM_011541214.1:c.4090T>A	XP_011539516.1:p.Ser1364Thr
XM_011541215.1:c.4021T>A	XP_011539517.1:p.Ser1341Thr
XM_011541216.1:c.4132T>A	XP_011539518.1:p.Ser1378Thr
XM_011541217.1:c.4132T>A	XP_011539519.1:p.Ser1378Thr
XM_011541218.1:c.4132T>A	XP_011539520.1:p.Ser1378Thr
XM_011541219.1:c.4078T>A	XP_011539521.1:p.Ser1360Thr
XM_006710563.3:c.4132T>A	XP_006710626.1:p.Ser1378Thr
XM_011541216.2:c.4132T>A	XP_011539518.1:p.Ser1378Thr
XM_011541217.2:c.4132T>A	XP_011539519.1:p.Ser1378Thr
XM_011541218.2:c.4132T>A	XP_011539520.1:p.Ser1378Thr
XM_017000996.1:c.4087T>A	XP_016856485.1:p.Ser1363Thr
XM_017000997.1:c.4132T>A	XP_016856486.1:p.Ser1378Thr
XM_017000999.1:c.3604T>A	XP_016856488.1:p.Ser1202Thr
XM_017001000.2:c.3604T>A	XP_016856489.1:p.Ser1202Thr
XM_017001001.1:c.3334T>A	XP_016856490.1:p.Ser1112Thr
XM_017001003.1:c.2593T>A	XP_016856492.1:p.Ser865Thr
XR_001737114.1:n.3998T>A
XR_001737115.1:n.3983T>A
NM_015102.5:c.4132T>A MANE Select	NP_055917.1:p.Ser1378Thr
NM_001291593.2:c.2593T>A	NP_001278522.1:p.Ser865Thr
NM_001291594.2:c.2596T>A	NP_001278523.1:p.Ser866Thr
NR_111987.2:n.4899T>A