Canonical Allele Identifier: CA553528

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5866372C>A , CM000663.2:g.5866372C>A	GRCh38
NC_000001.10:g.5926432C>A , CM000663.1:g.5926432C>A	GRCh37
NC_000001.9:g.5849019C>A	NCBI36
NG_011724.2:g.131100G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.3644+1G>T MANE Select	NP_055917.1:n.3644+1G>T
ENST00000378156.9:c.3644+1G>T MANE Select	ENSP00000367398.4:n.3644+1G>T
NM_001291593.1:c.2105+1G>T	NP_001278522.1:n.2105+1G>T
NM_001291593.2:c.2105+1G>T	NP_001278522.1:n.2105+1G>T
NM_001291594.1:c.2108+1G>T	NP_001278523.1:n.2108+1G>T
NM_001291594.2:c.2108+1G>T	NP_001278523.1:n.2108+1G>T
NM_015102.4:c.3644+1G>T	NP_055917.1:n.3644+1G>T
NR_111987.1:n.4459+1G>T
NR_111987.2:n.4411+1G>T
ENST00000378156.8:c.3644+1G>T	ENSP00000367398.4:n.3644+1G>T
ENST00000378161.5:n.809G>T
ENST00000378169.7:c.*2545+1G>T	ENSP00000367411.3:n.*2545+1G>T
ENST00000460696.1:n.710G>T
ENST00000478423.6:n.3376+1G>T
ENST00000489180.6:c.*1455+1G>T	ENSP00000423747.1:n.*1455+1G>T
XM_006710563.2:c.3644+1G>T	XP_006710626.1:n.3644+1G>T
XM_006710563.3:c.3644+1G>T	XP_006710626.1:n.3644+1G>T
XM_006710565.2:c.3644+1G>T	XP_006710628.1:n.3644+1G>T
XM_011541213.1:c.3641+1G>T	XP_011539515.1:n.3641+1G>T
XM_011541214.1:c.3602+1G>T	XP_011539516.1:n.3602+1G>T
XM_011541215.1:c.3533+1G>T	XP_011539517.1:n.3533+1G>T
XM_011541216.1:c.3644+1G>T	XP_011539518.1:n.3644+1G>T
XM_011541216.2:c.3644+1G>T	XP_011539518.1:n.3644+1G>T
XM_011541217.1:c.3644+1G>T	XP_011539519.1:n.3644+1G>T
XM_011541217.2:c.3644+1G>T	XP_011539519.1:n.3644+1G>T
XM_011541218.1:c.3644+1G>T	XP_011539520.1:n.3644+1G>T
XM_011541218.2:c.3644+1G>T	XP_011539520.1:n.3644+1G>T
XM_011541219.1:c.3590+1G>T	XP_011539521.1:n.3590+1G>T
XM_011541220.1:c.3644+1G>T	XP_011539522.1:n.3644+1G>T
XM_017000996.1:c.3599+1G>T	XP_016856485.1:n.3599+1G>T
XM_017000997.1:c.3644+1G>T	XP_016856486.1:n.3644+1G>T
XM_017000998.1:c.3644+1G>T	XP_016856487.1:n.3644+1G>T
XM_017000999.1:c.3116+1G>T	XP_016856488.1:n.3116+1G>T
XM_017001000.2:c.3116+1G>T	XP_016856489.1:n.3116+1G>T
XM_017001001.1:c.2846+1G>T	XP_016856490.1:n.2846+1G>T
XM_017001003.1:c.2105+1G>T	XP_016856492.1:n.2105+1G>T
XR_001737114.1:n.3682+1G>T
XR_001737115.1:n.3495+1G>T