Canonical Allele Identifier: CA338049119

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924046C>A (hg19) ; chr1:g.5863986C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863986C>A , CM000663.2:g.5863986C>A	GRCh38
NC_000001.10:g.5924046C>A , CM000663.1:g.5924046C>A	GRCh37
NC_000001.9:g.5846633C>A	NCBI36
NG_011724.2:g.133486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4044G>T MANE Select	ENSP00000367398.4:p.Lys1348Asn
ENST00000378156.8:c.4044G>T	ENSP00000367398.4:p.Lys1348Asn
ENST00000378161.5:n.3195G>T
ENST00000378169.7:c.*2945G>T	ENSP00000367411.3:n.*2945G>T
ENST00000460696.1:n.2792G>T
ENST00000478423.6:n.3776G>T
ENST00000489180.6:c.*1855G>T	ENSP00000423747.1:n.*1855G>T
NM_001291593.1:c.2505G>T	NP_001278522.1:p.Lys835Asn
NM_001291594.1:c.2508G>T	NP_001278523.1:p.Lys836Asn
NM_015102.4:c.4044G>T	NP_055917.1:p.Lys1348Asn
NR_111987.1:n.4859G>T
XM_006710563.2:c.4044G>T	XP_006710626.1:p.Lys1348Asn
XM_006710565.2:c.4044G>T	XP_006710628.1:p.Lys1348Asn
XM_011541213.1:c.4041G>T	XP_011539515.1:p.Lys1347Asn
XM_011541214.1:c.4002G>T	XP_011539516.1:p.Lys1334Asn
XM_011541215.1:c.3933G>T	XP_011539517.1:p.Lys1311Asn
XM_011541216.1:c.4044G>T	XP_011539518.1:p.Lys1348Asn
XM_011541217.1:c.4044G>T	XP_011539519.1:p.Lys1348Asn
XM_011541218.1:c.4044G>T	XP_011539520.1:p.Lys1348Asn
XM_011541219.1:c.3990G>T	XP_011539521.1:p.Lys1330Asn
XM_006710563.3:c.4044G>T	XP_006710626.1:p.Lys1348Asn
XM_011541216.2:c.4044G>T	XP_011539518.1:p.Lys1348Asn
XM_011541217.2:c.4044G>T	XP_011539519.1:p.Lys1348Asn
XM_011541218.2:c.4044G>T	XP_011539520.1:p.Lys1348Asn
XM_017000996.1:c.3999G>T	XP_016856485.1:p.Lys1333Asn
XM_017000997.1:c.4044G>T	XP_016856486.1:p.Lys1348Asn
XM_017000999.1:c.3516G>T	XP_016856488.1:p.Lys1172Asn
XM_017001000.2:c.3516G>T	XP_016856489.1:p.Lys1172Asn
XM_017001001.1:c.3246G>T	XP_016856490.1:p.Lys1082Asn
XM_017001003.1:c.2505G>T	XP_016856492.1:p.Lys835Asn
XR_001737114.1:n.3910G>T
XR_001737115.1:n.3895G>T
NM_015102.5:c.4044G>T MANE Select	NP_055917.1:p.Lys1348Asn
NM_001291593.2:c.2505G>T	NP_001278522.1:p.Lys835Asn
NM_001291594.2:c.2508G>T	NP_001278523.1:p.Lys836Asn
NR_111987.2:n.4811G>T