Canonical Allele Identifier: CA338048996

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924014C>A (hg19) ; chr1:g.5863954C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863954C>A , CM000663.2:g.5863954C>A	GRCh38
NC_000001.10:g.5924014C>A , CM000663.1:g.5924014C>A	GRCh37
NC_000001.9:g.5846601C>A	NCBI36
NG_011724.2:g.133518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4076G>T MANE Select	ENSP00000367398.4:p.Arg1359Leu
ENST00000378156.8:c.4076G>T	ENSP00000367398.4:p.Arg1359Leu
ENST00000378161.5:n.3227G>T
ENST00000378169.7:c.*2977G>T	ENSP00000367411.3:n.*2977G>T
ENST00000460696.1:n.2824G>T
ENST00000478423.6:n.3808G>T
ENST00000489180.6:c.*1887G>T	ENSP00000423747.1:n.*1887G>T
NM_001291593.1:c.2537G>T	NP_001278522.1:p.Arg846Leu
NM_001291594.1:c.2540G>T	NP_001278523.1:p.Arg847Leu
NM_015102.4:c.4076G>T	NP_055917.1:p.Arg1359Leu
NR_111987.1:n.4891G>T
XM_006710563.2:c.4076G>T	XP_006710626.1:p.Arg1359Leu
XM_006710565.2:c.4076G>T	XP_006710628.1:p.Arg1359Leu
XM_011541213.1:c.4073G>T	XP_011539515.1:p.Arg1358Leu
XM_011541214.1:c.4034G>T	XP_011539516.1:p.Arg1345Leu
XM_011541215.1:c.3965G>T	XP_011539517.1:p.Arg1322Leu
XM_011541216.1:c.4076G>T	XP_011539518.1:p.Arg1359Leu
XM_011541217.1:c.4076G>T	XP_011539519.1:p.Arg1359Leu
XM_011541218.1:c.4076G>T	XP_011539520.1:p.Arg1359Leu
XM_011541219.1:c.4022G>T	XP_011539521.1:p.Arg1341Leu
XM_006710563.3:c.4076G>T	XP_006710626.1:p.Arg1359Leu
XM_011541216.2:c.4076G>T	XP_011539518.1:p.Arg1359Leu
XM_011541217.2:c.4076G>T	XP_011539519.1:p.Arg1359Leu
XM_011541218.2:c.4076G>T	XP_011539520.1:p.Arg1359Leu
XM_017000996.1:c.4031G>T	XP_016856485.1:p.Arg1344Leu
XM_017000997.1:c.4076G>T	XP_016856486.1:p.Arg1359Leu
XM_017000999.1:c.3548G>T	XP_016856488.1:p.Arg1183Leu
XM_017001000.2:c.3548G>T	XP_016856489.1:p.Arg1183Leu
XM_017001001.1:c.3278G>T	XP_016856490.1:p.Arg1093Leu
XM_017001003.1:c.2537G>T	XP_016856492.1:p.Arg846Leu
XR_001737114.1:n.3942G>T
XR_001737115.1:n.3927G>T
NM_015102.5:c.4076G>T MANE Select	NP_055917.1:p.Arg1359Leu
NM_001291593.2:c.2537G>T	NP_001278522.1:p.Arg846Leu
NM_001291594.2:c.2540G>T	NP_001278523.1:p.Arg847Leu
NR_111987.2:n.4843G>T