Canonical Allele Identifier: CA338049144

Gene: NPHP4

Linked Data

• COSMIC: COSM6433694
• MyVariant Identifiers: chr1:g.5924051T>C (hg19) ; chr1:g.5863991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863991T>C , CM000663.2:g.5863991T>C	GRCh38
NC_000001.10:g.5924051T>C , CM000663.1:g.5924051T>C	GRCh37
NC_000001.9:g.5846638T>C	NCBI36
NG_011724.2:g.133481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4039A>G MANE Select	ENSP00000367398.4:p.Asn1347Asp
ENST00000378156.8:c.4039A>G	ENSP00000367398.4:p.Asn1347Asp
ENST00000378161.5:n.3190A>G
ENST00000378169.7:c.*2940A>G	ENSP00000367411.3:n.*2940A>G
ENST00000460696.1:n.2787A>G
ENST00000478423.6:n.3771A>G
ENST00000489180.6:c.*1850A>G	ENSP00000423747.1:n.*1850A>G
NM_001291593.1:c.2500A>G	NP_001278522.1:p.Asn834Asp
NM_001291594.1:c.2503A>G	NP_001278523.1:p.Asn835Asp
NM_015102.4:c.4039A>G	NP_055917.1:p.Asn1347Asp
NR_111987.1:n.4854A>G
XM_006710563.2:c.4039A>G	XP_006710626.1:p.Asn1347Asp
XM_006710565.2:c.4039A>G	XP_006710628.1:p.Asn1347Asp
XM_011541213.1:c.4036A>G	XP_011539515.1:p.Asn1346Asp
XM_011541214.1:c.3997A>G	XP_011539516.1:p.Asn1333Asp
XM_011541215.1:c.3928A>G	XP_011539517.1:p.Asn1310Asp
XM_011541216.1:c.4039A>G	XP_011539518.1:p.Asn1347Asp
XM_011541217.1:c.4039A>G	XP_011539519.1:p.Asn1347Asp
XM_011541218.1:c.4039A>G	XP_011539520.1:p.Asn1347Asp
XM_011541219.1:c.3985A>G	XP_011539521.1:p.Asn1329Asp
XM_006710563.3:c.4039A>G	XP_006710626.1:p.Asn1347Asp
XM_011541216.2:c.4039A>G	XP_011539518.1:p.Asn1347Asp
XM_011541217.2:c.4039A>G	XP_011539519.1:p.Asn1347Asp
XM_011541218.2:c.4039A>G	XP_011539520.1:p.Asn1347Asp
XM_017000996.1:c.3994A>G	XP_016856485.1:p.Asn1332Asp
XM_017000997.1:c.4039A>G	XP_016856486.1:p.Asn1347Asp
XM_017000999.1:c.3511A>G	XP_016856488.1:p.Asn1171Asp
XM_017001000.2:c.3511A>G	XP_016856489.1:p.Asn1171Asp
XM_017001001.1:c.3241A>G	XP_016856490.1:p.Asn1081Asp
XM_017001003.1:c.2500A>G	XP_016856492.1:p.Asn834Asp
XR_001737114.1:n.3905A>G
XR_001737115.1:n.3890A>G
NM_015102.5:c.4039A>G MANE Select	NP_055917.1:p.Asn1347Asp
NM_001291593.2:c.2500A>G	NP_001278522.1:p.Asn834Asp
NM_001291594.2:c.2503A>G	NP_001278523.1:p.Asn835Asp
NR_111987.2:n.4806A>G