Canonical Allele Identifier: CA521016957

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864321C>G , CM000663.2:g.5864321C>G	GRCh38
NC_000001.10:g.5924381C>G , CM000663.1:g.5924381C>G	GRCh37
NC_000001.9:g.5846968C>G	NCBI36
NG_011724.2:g.133151G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.3996+17G>C MANE Select	NP_055917.1:n.3996+17G>C
ENST00000378156.9:c.3996+17G>C MANE Select	ENSP00000367398.4:n.3996+17G>C
NM_001291593.1:c.2457+17G>C	NP_001278522.1:n.2457+17G>C
NM_001291593.2:c.2457+17G>C	NP_001278522.1:n.2457+17G>C
NM_001291594.1:c.2460+17G>C	NP_001278523.1:n.2460+17G>C
NM_001291594.2:c.2460+17G>C	NP_001278523.1:n.2460+17G>C
NM_015102.4:c.3996+17G>C	NP_055917.1:n.3996+17G>C
NR_111987.1:n.4811+17G>C
NR_111987.2:n.4763+17G>C
ENST00000378156.8:c.3996+17G>C	ENSP00000367398.4:n.3996+17G>C
ENST00000378161.5:n.2860G>C
ENST00000378169.7:c.*2897+17G>C	ENSP00000367411.3:n.*2897+17G>C
ENST00000460696.1:n.2744+17G>C
ENST00000478423.6:n.3728+17G>C
ENST00000489180.6:c.*1807+17G>C	ENSP00000423747.1:n.*1807+17G>C
XM_006710563.2:c.3996+17G>C	XP_006710626.1:n.3996+17G>C
XM_006710563.3:c.3996+17G>C	XP_006710626.1:n.3996+17G>C
XM_006710565.2:c.3996+17G>C	XP_006710628.1:n.3996+17G>C
XM_011541213.1:c.3993+17G>C	XP_011539515.1:n.3993+17G>C
XM_011541214.1:c.3954+17G>C	XP_011539516.1:n.3954+17G>C
XM_011541215.1:c.3885+17G>C	XP_011539517.1:n.3885+17G>C
XM_011541216.1:c.3996+17G>C	XP_011539518.1:n.3996+17G>C
XM_011541216.2:c.3996+17G>C	XP_011539518.1:n.3996+17G>C
XM_011541217.1:c.3996+17G>C	XP_011539519.1:n.3996+17G>C
XM_011541217.2:c.3996+17G>C	XP_011539519.1:n.3996+17G>C
XM_011541218.1:c.3996+17G>C	XP_011539520.1:n.3996+17G>C
XM_011541218.2:c.3996+17G>C	XP_011539520.1:n.3996+17G>C
XM_011541219.1:c.3942+17G>C	XP_011539521.1:n.3942+17G>C
XM_017000996.1:c.3951+17G>C	XP_016856485.1:n.3951+17G>C
XM_017000997.1:c.3996+17G>C	XP_016856486.1:n.3996+17G>C
XM_017000999.1:c.3468+17G>C	XP_016856488.1:n.3468+17G>C
XM_017001000.2:c.3468+17G>C	XP_016856489.1:n.3468+17G>C
XM_017001001.1:c.3198+17G>C	XP_016856490.1:n.3198+17G>C
XM_017001003.1:c.2457+17G>C	XP_016856492.1:n.2457+17G>C
XR_001737114.1:n.3862+17G>C
XR_001737115.1:n.3847+17G>C