Canonical Allele Identifier: CA338047293

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923351A>G (hg19) ; chr1:g.5863291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863291A>G , CM000663.2:g.5863291A>G	GRCh38
NC_000001.10:g.5923351A>G , CM000663.1:g.5923351A>G	GRCh37
NC_000001.9:g.5845938A>G	NCBI36
NG_011724.2:g.134181T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4255T>C MANE Select	ENSP00000367398.4:p.Phe1419Leu
ENST00000378156.8:c.4255T>C	ENSP00000367398.4:p.Phe1419Leu
ENST00000378161.5:n.3890T>C
ENST00000378169.7:c.*3156T>C	ENSP00000367411.3:n.*3156T>C
ENST00000460696.1:n.3487T>C
ENST00000478423.6:n.3987T>C
ENST00000489180.6:c.*2066T>C	ENSP00000423747.1:n.*2066T>C
NM_001291593.1:c.2716T>C	NP_001278522.1:p.Phe906Leu
NM_001291594.1:c.2719T>C	NP_001278523.1:p.Phe907Leu
NM_015102.4:c.4255T>C	NP_055917.1:p.Phe1419Leu
NR_111987.1:n.5070T>C
XM_006710563.2:c.4255T>C	XP_006710626.1:p.Phe1419Leu
XM_006710565.2:c.4255T>C	XP_006710628.1:p.Phe1419Leu
XM_011541213.1:c.4252T>C	XP_011539515.1:p.Phe1418Leu
XM_011541214.1:c.4213T>C	XP_011539516.1:p.Phe1405Leu
XM_011541215.1:c.4144T>C	XP_011539517.1:p.Phe1382Leu
XM_011541216.1:c.4255T>C	XP_011539518.1:p.Phe1419Leu
XM_011541217.1:c.4255T>C	XP_011539519.1:p.Phe1419Leu
XM_011541218.1:c.4255T>C	XP_011539520.1:p.Phe1419Leu
XM_011541219.1:c.4201T>C	XP_011539521.1:p.Phe1401Leu
XM_006710563.3:c.4255T>C	XP_006710626.1:p.Phe1419Leu
XM_011541216.2:c.4255T>C	XP_011539518.1:p.Phe1419Leu
XM_011541217.2:c.4255T>C	XP_011539519.1:p.Phe1419Leu
XM_011541218.2:c.4255T>C	XP_011539520.1:p.Phe1419Leu
XM_017000996.1:c.4210T>C	XP_016856485.1:p.Phe1404Leu
XM_017000997.1:c.4255T>C	XP_016856486.1:p.Phe1419Leu
XM_017000999.1:c.3727T>C	XP_016856488.1:p.Phe1243Leu
XM_017001000.2:c.3727T>C	XP_016856489.1:p.Phe1243Leu
XM_017001001.1:c.3457T>C	XP_016856490.1:p.Phe1153Leu
XM_017001003.1:c.2716T>C	XP_016856492.1:p.Phe906Leu
XR_001737114.1:n.4121T>C
XR_001737115.1:n.4106T>C
NM_015102.5:c.4255T>C MANE Select	NP_055917.1:p.Phe1419Leu
NM_001291593.2:c.2716T>C	NP_001278522.1:p.Phe906Leu
NM_001291594.2:c.2719T>C	NP_001278523.1:p.Phe907Leu
NR_111987.2:n.5022T>C