Canonical Allele Identifier: CA338047247

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923346G>T (hg19) ; chr1:g.5863286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863286G>T , CM000663.2:g.5863286G>T	GRCh38
NC_000001.10:g.5923346G>T , CM000663.1:g.5923346G>T	GRCh37
NC_000001.9:g.5845933G>T	NCBI36
NG_011724.2:g.134186C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4260C>A MANE Select	ENSP00000367398.4:p.Cys1420Ter
ENST00000378156.8:c.4260C>A	ENSP00000367398.4:p.Cys1420Ter
ENST00000378161.5:n.3895C>A
ENST00000378169.7:c.*3161C>A	ENSP00000367411.3:n.*3161C>A
ENST00000460696.1:n.3492C>A
ENST00000478423.6:n.3992C>A
ENST00000489180.6:c.*2071C>A	ENSP00000423747.1:n.*2071C>A
NM_001291593.1:c.2721C>A	NP_001278522.1:p.Cys907Ter
NM_001291594.1:c.2724C>A	NP_001278523.1:p.Cys908Ter
NM_015102.4:c.4260C>A	NP_055917.1:p.Cys1420Ter
NR_111987.1:n.5075C>A
XM_006710563.2:c.4260C>A	XP_006710626.1:p.Cys1420Ter
XM_006710565.2:c.4260C>A	XP_006710628.1:p.Cys1420Ter
XM_011541213.1:c.4257C>A	XP_011539515.1:p.Cys1419Ter
XM_011541214.1:c.4218C>A	XP_011539516.1:p.Cys1406Ter
XM_011541215.1:c.4149C>A	XP_011539517.1:p.Cys1383Ter
XM_011541216.1:c.4260C>A	XP_011539518.1:p.Cys1420Ter
XM_011541217.1:c.4260C>A	XP_011539519.1:p.Cys1420Ter
XM_011541218.1:c.4260C>A	XP_011539520.1:p.Cys1420Ter
XM_011541219.1:c.4206C>A	XP_011539521.1:p.Cys1402Ter
XM_006710563.3:c.4260C>A	XP_006710626.1:p.Cys1420Ter
XM_011541216.2:c.4260C>A	XP_011539518.1:p.Cys1420Ter
XM_011541217.2:c.4260C>A	XP_011539519.1:p.Cys1420Ter
XM_011541218.2:c.4260C>A	XP_011539520.1:p.Cys1420Ter
XM_017000996.1:c.4215C>A	XP_016856485.1:p.Cys1405Ter
XM_017000997.1:c.4260C>A	XP_016856486.1:p.Cys1420Ter
XM_017000999.1:c.3732C>A	XP_016856488.1:p.Cys1244Ter
XM_017001000.2:c.3732C>A	XP_016856489.1:p.Cys1244Ter
XM_017001001.1:c.3462C>A	XP_016856490.1:p.Cys1154Ter
XM_017001003.1:c.2721C>A	XP_016856492.1:p.Cys907Ter
XR_001737114.1:n.4126C>A
XR_001737115.1:n.4111C>A
NM_015102.5:c.4260C>A MANE Select	NP_055917.1:p.Cys1420Ter
NM_001291593.2:c.2721C>A	NP_001278522.1:p.Cys907Ter
NM_001291594.2:c.2724C>A	NP_001278523.1:p.Cys908Ter
NR_111987.2:n.5027C>A