Canonical Allele Identifier: CA338057473

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5937315A>C (hg19) ; chr1:g.5877255A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5877255A>C , CM000663.2:g.5877255A>C	GRCh38
NC_000001.10:g.5937315A>C , CM000663.1:g.5937315A>C	GRCh37
NC_000001.9:g.5859902A>C	NCBI36
NG_011724.2:g.120217T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.2655T>G MANE Select	ENSP00000367398.4:p.Ser885Arg
ENST00000378156.8:c.2655T>G	ENSP00000367398.4:p.Ser885Arg
ENST00000378169.7:c.*1556T>G	ENSP00000367411.3:n.*1556T>G
ENST00000470763.1:n.2780T>G
ENST00000478423.6:n.2387T>G
ENST00000489180.6:c.*203T>G	ENSP00000423747.1:n.*203T>G
ENST00000506941.1:n.212T>G
NM_001291593.1:c.1116T>G	NP_001278522.1:p.Ser372Arg
NM_001291594.1:c.1119T>G	NP_001278523.1:p.Ser373Arg
NM_015102.4:c.2655T>G	NP_055917.1:p.Ser885Arg
NR_111987.1:n.3207T>G
XM_006710563.2:c.2655T>G	XP_006710626.1:p.Ser885Arg
XM_006710565.2:c.2655T>G	XP_006710628.1:p.Ser885Arg
XM_011541213.1:c.2652T>G	XP_011539515.1:p.Ser884Arg
XM_011541214.1:c.2655T>G	XP_011539516.1:p.Ser885Arg
XM_011541215.1:c.2544T>G	XP_011539517.1:p.Ser848Arg
XM_011541216.1:c.2655T>G	XP_011539518.1:p.Ser885Arg
XM_011541217.1:c.2655T>G	XP_011539519.1:p.Ser885Arg
XM_011541218.1:c.2655T>G	XP_011539520.1:p.Ser885Arg
XM_011541219.1:c.2601T>G	XP_011539521.1:p.Ser867Arg
XM_011541220.1:c.2655T>G	XP_011539522.1:p.Ser885Arg
XR_946604.1:n.2693T>G
XR_946605.1:n.2532T>G
XM_006710563.3:c.2655T>G	XP_006710626.1:p.Ser885Arg
XM_011541216.2:c.2655T>G	XP_011539518.1:p.Ser885Arg
XM_011541217.2:c.2655T>G	XP_011539519.1:p.Ser885Arg
XM_011541218.2:c.2655T>G	XP_011539520.1:p.Ser885Arg
XM_017000996.1:c.2652T>G	XP_016856485.1:p.Ser884Arg
XM_017000997.1:c.2655T>G	XP_016856486.1:p.Ser885Arg
XM_017000998.1:c.2655T>G	XP_016856487.1:p.Ser885Arg
XM_017000999.1:c.2127T>G	XP_016856488.1:p.Ser709Arg
XM_017001000.2:c.2127T>G	XP_016856489.1:p.Ser709Arg
XM_017001001.1:c.1857T>G	XP_016856490.1:p.Ser619Arg
XM_017001002.1:c.2655T>G	XP_016856491.1:p.Ser885Arg
XM_017001003.1:c.1116T>G	XP_016856492.1:p.Ser372Arg
XR_001737114.1:n.2693T>G
XR_001737115.1:n.2693T>G
NM_015102.5:c.2655T>G MANE Select	NP_055917.1:p.Ser885Arg
NM_001291593.2:c.1116T>G	NP_001278522.1:p.Ser372Arg
NM_001291594.2:c.1119T>G	NP_001278523.1:p.Ser373Arg
NR_111987.2:n.3159T>G