Canonical Allele Identifier: CA338047326

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5923357C>G (hg19) ; chr1:g.5863297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863297C>G , CM000663.2:g.5863297C>G	GRCh38
NC_000001.10:g.5923357C>G , CM000663.1:g.5923357C>G	GRCh37
NC_000001.9:g.5845944C>G	NCBI36
NG_011724.2:g.134175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4249G>C MANE Select	ENSP00000367398.4:p.Glu1417Gln
ENST00000378156.8:c.4249G>C	ENSP00000367398.4:p.Glu1417Gln
ENST00000378161.5:n.3884G>C
ENST00000378169.7:c.*3150G>C	ENSP00000367411.3:n.*3150G>C
ENST00000460696.1:n.3481G>C
ENST00000478423.6:n.3981G>C
ENST00000489180.6:c.*2060G>C	ENSP00000423747.1:n.*2060G>C
NM_001291593.1:c.2710G>C	NP_001278522.1:p.Glu904Gln
NM_001291594.1:c.2713G>C	NP_001278523.1:p.Glu905Gln
NM_015102.4:c.4249G>C	NP_055917.1:p.Glu1417Gln
NR_111987.1:n.5064G>C
XM_006710563.2:c.4249G>C	XP_006710626.1:p.Glu1417Gln
XM_006710565.2:c.4249G>C	XP_006710628.1:p.Glu1417Gln
XM_011541213.1:c.4246G>C	XP_011539515.1:p.Glu1416Gln
XM_011541214.1:c.4207G>C	XP_011539516.1:p.Glu1403Gln
XM_011541215.1:c.4138G>C	XP_011539517.1:p.Glu1380Gln
XM_011541216.1:c.4249G>C	XP_011539518.1:p.Glu1417Gln
XM_011541217.1:c.4249G>C	XP_011539519.1:p.Glu1417Gln
XM_011541218.1:c.4249G>C	XP_011539520.1:p.Glu1417Gln
XM_011541219.1:c.4195G>C	XP_011539521.1:p.Glu1399Gln
XM_006710563.3:c.4249G>C	XP_006710626.1:p.Glu1417Gln
XM_011541216.2:c.4249G>C	XP_011539518.1:p.Glu1417Gln
XM_011541217.2:c.4249G>C	XP_011539519.1:p.Glu1417Gln
XM_011541218.2:c.4249G>C	XP_011539520.1:p.Glu1417Gln
XM_017000996.1:c.4204G>C	XP_016856485.1:p.Glu1402Gln
XM_017000997.1:c.4249G>C	XP_016856486.1:p.Glu1417Gln
XM_017000999.1:c.3721G>C	XP_016856488.1:p.Glu1241Gln
XM_017001000.2:c.3721G>C	XP_016856489.1:p.Glu1241Gln
XM_017001001.1:c.3451G>C	XP_016856490.1:p.Glu1151Gln
XM_017001003.1:c.2710G>C	XP_016856492.1:p.Glu904Gln
XR_001737114.1:n.4115G>C
XR_001737115.1:n.4100G>C
NM_015102.5:c.4249G>C MANE Select	NP_055917.1:p.Glu1417Gln
NM_001291593.2:c.2710G>C	NP_001278522.1:p.Glu904Gln
NM_001291594.2:c.2713G>C	NP_001278523.1:p.Glu905Gln
NR_111987.2:n.5016G>C