Canonical Allele Identifier: CA338047245

Gene: NPHP4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.4260C>G MANE Select	ENSP00000367398.4:p.Cys1420Trp
ENST00000378156.8:c.4260C>G	ENSP00000367398.4:p.Cys1420Trp
ENST00000378161.5:n.3895C>G
ENST00000378169.7:c.*3161C>G	ENSP00000367411.3:n.*3161C>G
ENST00000460696.1:n.3492C>G
ENST00000478423.6:n.3992C>G
ENST00000489180.6:c.*2071C>G	ENSP00000423747.1:n.*2071C>G
NM_001291593.1:c.2721C>G	NP_001278522.1:p.Cys907Trp
NM_001291594.1:c.2724C>G	NP_001278523.1:p.Cys908Trp
NM_015102.4:c.4260C>G	NP_055917.1:p.Cys1420Trp
NR_111987.1:n.5075C>G
XM_006710563.2:c.4260C>G	XP_006710626.1:p.Cys1420Trp
XM_006710565.2:c.4260C>G	XP_006710628.1:p.Cys1420Trp
XM_011541213.1:c.4257C>G	XP_011539515.1:p.Cys1419Trp
XM_011541214.1:c.4218C>G	XP_011539516.1:p.Cys1406Trp
XM_011541215.1:c.4149C>G	XP_011539517.1:p.Cys1383Trp
XM_011541216.1:c.4260C>G	XP_011539518.1:p.Cys1420Trp
XM_011541217.1:c.4260C>G	XP_011539519.1:p.Cys1420Trp
XM_011541218.1:c.4260C>G	XP_011539520.1:p.Cys1420Trp
XM_011541219.1:c.4206C>G	XP_011539521.1:p.Cys1402Trp
XM_006710563.3:c.4260C>G	XP_006710626.1:p.Cys1420Trp
XM_011541216.2:c.4260C>G	XP_011539518.1:p.Cys1420Trp
XM_011541217.2:c.4260C>G	XP_011539519.1:p.Cys1420Trp
XM_011541218.2:c.4260C>G	XP_011539520.1:p.Cys1420Trp
XM_017000996.1:c.4215C>G	XP_016856485.1:p.Cys1405Trp
XM_017000997.1:c.4260C>G	XP_016856486.1:p.Cys1420Trp
XM_017000999.1:c.3732C>G	XP_016856488.1:p.Cys1244Trp
XM_017001000.2:c.3732C>G	XP_016856489.1:p.Cys1244Trp
XM_017001001.1:c.3462C>G	XP_016856490.1:p.Cys1154Trp
XM_017001003.1:c.2721C>G	XP_016856492.1:p.Cys907Trp
XR_001737114.1:n.4126C>G
XR_001737115.1:n.4111C>G
NM_015102.5:c.4260C>G MANE Select	NP_055917.1:p.Cys1420Trp
NM_001291593.2:c.2721C>G	NP_001278522.1:p.Cys907Trp
NM_001291594.2:c.2724C>G	NP_001278523.1:p.Cys908Trp
NR_111987.2:n.5027C>G