Canonical Allele Identifier: CA338049167

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924058C>A (hg19) ; chr1:g.5863998C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863998C>A , CM000663.2:g.5863998C>A	GRCh38
NC_000001.10:g.5924058C>A , CM000663.1:g.5924058C>A	GRCh37
NC_000001.9:g.5846645C>A	NCBI36
NG_011724.2:g.133474G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4032G>T MANE Select	ENSP00000367398.4:p.Lys1344Asn
ENST00000378156.8:c.4032G>T	ENSP00000367398.4:p.Lys1344Asn
ENST00000378161.5:n.3183G>T
ENST00000378169.7:c.*2933G>T	ENSP00000367411.3:n.*2933G>T
ENST00000460696.1:n.2780G>T
ENST00000478423.6:n.3764G>T
ENST00000489180.6:c.*1843G>T	ENSP00000423747.1:n.*1843G>T
NM_001291593.1:c.2493G>T	NP_001278522.1:p.Lys831Asn
NM_001291594.1:c.2496G>T	NP_001278523.1:p.Lys832Asn
NM_015102.4:c.4032G>T	NP_055917.1:p.Lys1344Asn
NR_111987.1:n.4847G>T
XM_006710563.2:c.4032G>T	XP_006710626.1:p.Lys1344Asn
XM_006710565.2:c.4032G>T	XP_006710628.1:p.Lys1344Asn
XM_011541213.1:c.4029G>T	XP_011539515.1:p.Lys1343Asn
XM_011541214.1:c.3990G>T	XP_011539516.1:p.Lys1330Asn
XM_011541215.1:c.3921G>T	XP_011539517.1:p.Lys1307Asn
XM_011541216.1:c.4032G>T	XP_011539518.1:p.Lys1344Asn
XM_011541217.1:c.4032G>T	XP_011539519.1:p.Lys1344Asn
XM_011541218.1:c.4032G>T	XP_011539520.1:p.Lys1344Asn
XM_011541219.1:c.3978G>T	XP_011539521.1:p.Lys1326Asn
XM_006710563.3:c.4032G>T	XP_006710626.1:p.Lys1344Asn
XM_011541216.2:c.4032G>T	XP_011539518.1:p.Lys1344Asn
XM_011541217.2:c.4032G>T	XP_011539519.1:p.Lys1344Asn
XM_011541218.2:c.4032G>T	XP_011539520.1:p.Lys1344Asn
XM_017000996.1:c.3987G>T	XP_016856485.1:p.Lys1329Asn
XM_017000997.1:c.4032G>T	XP_016856486.1:p.Lys1344Asn
XM_017000999.1:c.3504G>T	XP_016856488.1:p.Lys1168Asn
XM_017001000.2:c.3504G>T	XP_016856489.1:p.Lys1168Asn
XM_017001001.1:c.3234G>T	XP_016856490.1:p.Lys1078Asn
XM_017001003.1:c.2493G>T	XP_016856492.1:p.Lys831Asn
XR_001737114.1:n.3898G>T
XR_001737115.1:n.3883G>T
NM_015102.5:c.4032G>T MANE Select	NP_055917.1:p.Lys1344Asn
NM_001291593.2:c.2493G>T	NP_001278522.1:p.Lys831Asn
NM_001291594.2:c.2496G>T	NP_001278523.1:p.Lys832Asn
NR_111987.2:n.4799G>T