Canonical Allele Identifier: CA338058764

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5947468G>C (hg19) ; chr1:g.5887408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887408G>C , CM000663.2:g.5887408G>C	GRCh38
NC_000001.10:g.5947468G>C , CM000663.1:g.5947468G>C	GRCh37
NC_000001.9:g.5870055G>C	NCBI36
NG_011724.2:g.110064C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.2363C>G MANE Select	ENSP00000367398.4:p.Ala788Gly
ENST00000378156.8:c.2363C>G	ENSP00000367398.4:p.Ala788Gly
ENST00000378169.7:c.*1264C>G	ENSP00000367411.3:n.*1264C>G
ENST00000466897.1:c.592C>G
ENST00000478423.6:n.2095C>G
ENST00000489180.6:c.2360C>G	ENSP00000423747.1:p.Ala787Gly
ENST00000622020.4:c.2360C>G	ENSP00000481831.2:p.Ala787Gly
NM_001291593.1:c.824C>G	NP_001278522.1:p.Ala275Gly
NM_001291594.1:c.827C>G	NP_001278523.1:p.Ala276Gly
NM_015102.4:c.2363C>G	NP_055917.1:p.Ala788Gly
NR_111987.1:n.2628C>G
XM_006710563.2:c.2363C>G	XP_006710626.1:p.Ala788Gly
XM_006710565.2:c.2363C>G	XP_006710628.1:p.Ala788Gly
XM_011541213.1:c.2360C>G	XP_011539515.1:p.Ala787Gly
XM_011541214.1:c.2363C>G	XP_011539516.1:p.Ala788Gly
XM_011541215.1:c.2252C>G	XP_011539517.1:p.Ala751Gly
XM_011541216.1:c.2363C>G	XP_011539518.1:p.Ala788Gly
XM_011541217.1:c.2363C>G	XP_011539519.1:p.Ala788Gly
XM_011541218.1:c.2363C>G	XP_011539520.1:p.Ala788Gly
XM_011541219.1:c.2309C>G	XP_011539521.1:p.Ala770Gly
XM_011541220.1:c.2363C>G	XP_011539522.1:p.Ala788Gly
XR_946604.1:n.2401C>G
XR_946605.1:n.2240C>G
XM_006710563.3:c.2363C>G	XP_006710626.1:p.Ala788Gly
XM_011541216.2:c.2363C>G	XP_011539518.1:p.Ala788Gly
XM_011541217.2:c.2363C>G	XP_011539519.1:p.Ala788Gly
XM_011541218.2:c.2363C>G	XP_011539520.1:p.Ala788Gly
XM_017000996.1:c.2360C>G	XP_016856485.1:p.Ala787Gly
XM_017000997.1:c.2363C>G	XP_016856486.1:p.Ala788Gly
XM_017000998.1:c.2363C>G	XP_016856487.1:p.Ala788Gly
XM_017000999.1:c.1835C>G	XP_016856488.1:p.Ala612Gly
XM_017001000.2:c.1835C>G	XP_016856489.1:p.Ala612Gly
XM_017001001.1:c.1565C>G	XP_016856490.1:p.Ala522Gly
XM_017001002.1:c.2363C>G	XP_016856491.1:p.Ala788Gly
XM_017001003.1:c.824C>G	XP_016856492.1:p.Ala275Gly
XR_001737114.1:n.2401C>G
XR_001737115.1:n.2401C>G
NM_015102.5:c.2363C>G MANE Select	NP_055917.1:p.Ala788Gly
NM_001291593.2:c.824C>G	NP_001278522.1:p.Ala275Gly
NM_001291594.2:c.827C>G	NP_001278523.1:p.Ala276Gly
NR_111987.2:n.2580C>G