Canonical Allele Identifier: CA338047298

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923353G>T (hg19) ; chr1:g.5863293G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863293G>T , CM000663.2:g.5863293G>T	GRCh38
NC_000001.10:g.5923353G>T , CM000663.1:g.5923353G>T	GRCh37
NC_000001.9:g.5845940G>T	NCBI36
NG_011724.2:g.134179C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4253C>A MANE Select	ENSP00000367398.4:p.Ala1418Glu
ENST00000378156.8:c.4253C>A	ENSP00000367398.4:p.Ala1418Glu
ENST00000378161.5:n.3888C>A
ENST00000378169.7:c.*3154C>A	ENSP00000367411.3:n.*3154C>A
ENST00000460696.1:n.3485C>A
ENST00000478423.6:n.3985C>A
ENST00000489180.6:c.*2064C>A	ENSP00000423747.1:n.*2064C>A
NM_001291593.1:c.2714C>A	NP_001278522.1:p.Ala905Glu
NM_001291594.1:c.2717C>A	NP_001278523.1:p.Ala906Glu
NM_015102.4:c.4253C>A	NP_055917.1:p.Ala1418Glu
NR_111987.1:n.5068C>A
XM_006710563.2:c.4253C>A	XP_006710626.1:p.Ala1418Glu
XM_006710565.2:c.4253C>A	XP_006710628.1:p.Ala1418Glu
XM_011541213.1:c.4250C>A	XP_011539515.1:p.Ala1417Glu
XM_011541214.1:c.4211C>A	XP_011539516.1:p.Ala1404Glu
XM_011541215.1:c.4142C>A	XP_011539517.1:p.Ala1381Glu
XM_011541216.1:c.4253C>A	XP_011539518.1:p.Ala1418Glu
XM_011541217.1:c.4253C>A	XP_011539519.1:p.Ala1418Glu
XM_011541218.1:c.4253C>A	XP_011539520.1:p.Ala1418Glu
XM_011541219.1:c.4199C>A	XP_011539521.1:p.Ala1400Glu
XM_006710563.3:c.4253C>A	XP_006710626.1:p.Ala1418Glu
XM_011541216.2:c.4253C>A	XP_011539518.1:p.Ala1418Glu
XM_011541217.2:c.4253C>A	XP_011539519.1:p.Ala1418Glu
XM_011541218.2:c.4253C>A	XP_011539520.1:p.Ala1418Glu
XM_017000996.1:c.4208C>A	XP_016856485.1:p.Ala1403Glu
XM_017000997.1:c.4253C>A	XP_016856486.1:p.Ala1418Glu
XM_017000999.1:c.3725C>A	XP_016856488.1:p.Ala1242Glu
XM_017001000.2:c.3725C>A	XP_016856489.1:p.Ala1242Glu
XM_017001001.1:c.3455C>A	XP_016856490.1:p.Ala1152Glu
XM_017001003.1:c.2714C>A	XP_016856492.1:p.Ala905Glu
XR_001737114.1:n.4119C>A
XR_001737115.1:n.4104C>A
NM_015102.5:c.4253C>A MANE Select	NP_055917.1:p.Ala1418Glu
NM_001291593.2:c.2714C>A	NP_001278522.1:p.Ala905Glu
NM_001291594.2:c.2717C>A	NP_001278523.1:p.Ala906Glu
NR_111987.2:n.5020C>A