Canonical Allele Identifier: CA338049214

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5864009-C-G
• MyVariant Identifiers: chr1:g.5924069C>G (hg19) ; chr1:g.5864009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864009C>G , CM000663.2:g.5864009C>G	GRCh38
NC_000001.10:g.5924069C>G , CM000663.1:g.5924069C>G	GRCh37
NC_000001.9:g.5846656C>G	NCBI36
NG_011724.2:g.133463G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4021G>C MANE Select	ENSP00000367398.4:p.Gly1341Arg
ENST00000378156.8:c.4021G>C	ENSP00000367398.4:p.Gly1341Arg
ENST00000378161.5:n.3172G>C
ENST00000378169.7:c.*2922G>C	ENSP00000367411.3:n.*2922G>C
ENST00000460696.1:n.2769G>C
ENST00000478423.6:n.3753G>C
ENST00000489180.6:c.*1832G>C	ENSP00000423747.1:n.*1832G>C
NM_001291593.1:c.2482G>C	NP_001278522.1:p.Gly828Arg
NM_001291594.1:c.2485G>C	NP_001278523.1:p.Gly829Arg
NM_015102.4:c.4021G>C	NP_055917.1:p.Gly1341Arg
NR_111987.1:n.4836G>C
XM_006710563.2:c.4021G>C	XP_006710626.1:p.Gly1341Arg
XM_006710565.2:c.4021G>C	XP_006710628.1:p.Gly1341Arg
XM_011541213.1:c.4018G>C	XP_011539515.1:p.Gly1340Arg
XM_011541214.1:c.3979G>C	XP_011539516.1:p.Gly1327Arg
XM_011541215.1:c.3910G>C	XP_011539517.1:p.Gly1304Arg
XM_011541216.1:c.4021G>C	XP_011539518.1:p.Gly1341Arg
XM_011541217.1:c.4021G>C	XP_011539519.1:p.Gly1341Arg
XM_011541218.1:c.4021G>C	XP_011539520.1:p.Gly1341Arg
XM_011541219.1:c.3967G>C	XP_011539521.1:p.Gly1323Arg
XM_006710563.3:c.4021G>C	XP_006710626.1:p.Gly1341Arg
XM_011541216.2:c.4021G>C	XP_011539518.1:p.Gly1341Arg
XM_011541217.2:c.4021G>C	XP_011539519.1:p.Gly1341Arg
XM_011541218.2:c.4021G>C	XP_011539520.1:p.Gly1341Arg
XM_017000996.1:c.3976G>C	XP_016856485.1:p.Gly1326Arg
XM_017000997.1:c.4021G>C	XP_016856486.1:p.Gly1341Arg
XM_017000999.1:c.3493G>C	XP_016856488.1:p.Gly1165Arg
XM_017001000.2:c.3493G>C	XP_016856489.1:p.Gly1165Arg
XM_017001001.1:c.3223G>C	XP_016856490.1:p.Gly1075Arg
XM_017001003.1:c.2482G>C	XP_016856492.1:p.Gly828Arg
XR_001737114.1:n.3887G>C
XR_001737115.1:n.3872G>C
NM_015102.5:c.4021G>C MANE Select	NP_055917.1:p.Gly1341Arg
NM_001291593.2:c.2482G>C	NP_001278522.1:p.Gly828Arg
NM_001291594.2:c.2485G>C	NP_001278523.1:p.Gly829Arg
NR_111987.2:n.4788G>C