Canonical Allele Identifier: CA338048851

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923978A>C (hg19) ; chr1:g.5863918A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863918A>C , CM000663.2:g.5863918A>C	GRCh38
NC_000001.10:g.5923978A>C , CM000663.1:g.5923978A>C	GRCh37
NC_000001.9:g.5846565A>C	NCBI36
NG_011724.2:g.133554T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4112T>G MANE Select	ENSP00000367398.4:p.Leu1371Arg
ENST00000378156.8:c.4112T>G	ENSP00000367398.4:p.Leu1371Arg
ENST00000378161.5:n.3263T>G
ENST00000378169.7:c.*3013T>G	ENSP00000367411.3:n.*3013T>G
ENST00000460696.1:n.2860T>G
ENST00000478423.6:n.3844T>G
ENST00000489180.6:c.*1923T>G	ENSP00000423747.1:n.*1923T>G
NM_001291593.1:c.2573T>G	NP_001278522.1:p.Leu858Arg
NM_001291594.1:c.2576T>G	NP_001278523.1:p.Leu859Arg
NM_015102.4:c.4112T>G	NP_055917.1:p.Leu1371Arg
NR_111987.1:n.4927T>G
XM_006710563.2:c.4112T>G	XP_006710626.1:p.Leu1371Arg
XM_006710565.2:c.4112T>G	XP_006710628.1:p.Leu1371Arg
XM_011541213.1:c.4109T>G	XP_011539515.1:p.Leu1370Arg
XM_011541214.1:c.4070T>G	XP_011539516.1:p.Leu1357Arg
XM_011541215.1:c.4001T>G	XP_011539517.1:p.Leu1334Arg
XM_011541216.1:c.4112T>G	XP_011539518.1:p.Leu1371Arg
XM_011541217.1:c.4112T>G	XP_011539519.1:p.Leu1371Arg
XM_011541218.1:c.4112T>G	XP_011539520.1:p.Leu1371Arg
XM_011541219.1:c.4058T>G	XP_011539521.1:p.Leu1353Arg
XM_006710563.3:c.4112T>G	XP_006710626.1:p.Leu1371Arg
XM_011541216.2:c.4112T>G	XP_011539518.1:p.Leu1371Arg
XM_011541217.2:c.4112T>G	XP_011539519.1:p.Leu1371Arg
XM_011541218.2:c.4112T>G	XP_011539520.1:p.Leu1371Arg
XM_017000996.1:c.4067T>G	XP_016856485.1:p.Leu1356Arg
XM_017000997.1:c.4112T>G	XP_016856486.1:p.Leu1371Arg
XM_017000999.1:c.3584T>G	XP_016856488.1:p.Leu1195Arg
XM_017001000.2:c.3584T>G	XP_016856489.1:p.Leu1195Arg
XM_017001001.1:c.3314T>G	XP_016856490.1:p.Leu1105Arg
XM_017001003.1:c.2573T>G	XP_016856492.1:p.Leu858Arg
XR_001737114.1:n.3978T>G
XR_001737115.1:n.3963T>G
NM_015102.5:c.4112T>G MANE Select	NP_055917.1:p.Leu1371Arg
NM_001291593.2:c.2573T>G	NP_001278522.1:p.Leu858Arg
NM_001291594.2:c.2576T>G	NP_001278523.1:p.Leu859Arg
NR_111987.2:n.4879T>G