Canonical Allele Identifier: CA2642901716

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5863141-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863141C>A , CM000663.2:g.5863141C>A	GRCh38
NC_000001.10:g.5923201C>A , CM000663.1:g.5923201C>A	GRCh37
NC_000001.9:g.5845788C>A	NCBI36
NG_011724.2:g.134331G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.*124G>T MANE Select	ENSP00000367398.4:n.*124G>T
ENST00000378156.8:c.*124G>T	ENSP00000367398.4:n.*124G>T
ENST00000378161.5:n.4040G>T
ENST00000460696.1:n.3637G>T
ENST00000478423.6:n.4137G>T
ENST00000489180.6:c.*2216G>T	ENSP00000423747.1:n.*2216G>T
NM_001291593.1:c.*124G>T	NP_001278522.1:n.*124G>T
NM_001291594.1:c.*124G>T	NP_001278523.1:n.*124G>T
NM_015102.4:c.*124G>T	NP_055917.1:n.*124G>T
NR_111987.1:n.5220G>T
XM_006710563.2:c.*124G>T	XP_006710626.1:n.*124G>T
XM_006710565.2:c.*124G>T	XP_006710628.1:n.*124G>T
XM_011541213.1:c.*124G>T	XP_011539515.1:n.*124G>T
XM_011541214.1:c.*124G>T	XP_011539516.1:n.*124G>T
XM_011541215.1:c.*124G>T	XP_011539517.1:n.*124G>T
XM_011541216.1:c.*124G>T	XP_011539518.1:n.*124G>T
XM_011541217.1:c.*124G>T	XP_011539519.1:n.*124G>T
XM_011541218.1:c.*124G>T	XP_011539520.1:n.*124G>T
XM_011541219.1:c.*124G>T	XP_011539521.1:n.*124G>T
XM_006710563.3:c.*124G>T	XP_006710626.1:n.*124G>T
XM_011541216.2:c.*124G>T	XP_011539518.1:n.*124G>T
XM_011541217.2:c.*124G>T	XP_011539519.1:n.*124G>T
XM_011541218.2:c.*124G>T	XP_011539520.1:n.*124G>T
XM_017000996.1:c.*124G>T	XP_016856485.1:n.*124G>T
XM_017000997.1:c.*124G>T	XP_016856486.1:n.*124G>T
XM_017000999.1:c.*124G>T	XP_016856488.1:n.*124G>T
XM_017001000.2:c.*124G>T	XP_016856489.1:n.*124G>T
XM_017001001.1:c.*124G>T	XP_016856490.1:n.*124G>T
XM_017001003.1:c.*124G>T	XP_016856492.1:n.*124G>T
XR_001737114.1:n.4271G>T
XR_001737115.1:n.4256G>T
NM_015102.5:c.*124G>T MANE Select	NP_055917.1:n.*124G>T
NM_001291593.2:c.*124G>T	NP_001278522.1:n.*124G>T
NM_001291594.2:c.*124G>T	NP_001278523.1:n.*124G>T
NR_111987.2:n.5172G>T