Canonical Allele Identifier: CA338049175

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924059T>G (hg19) ; chr1:g.5863999T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863999T>G , CM000663.2:g.5863999T>G	GRCh38
NC_000001.10:g.5924059T>G , CM000663.1:g.5924059T>G	GRCh37
NC_000001.9:g.5846646T>G	NCBI36
NG_011724.2:g.133473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4031A>C MANE Select	ENSP00000367398.4:p.Lys1344Thr
ENST00000378156.8:c.4031A>C	ENSP00000367398.4:p.Lys1344Thr
ENST00000378161.5:n.3182A>C
ENST00000378169.7:c.*2932A>C	ENSP00000367411.3:n.*2932A>C
ENST00000460696.1:n.2779A>C
ENST00000478423.6:n.3763A>C
ENST00000489180.6:c.*1842A>C	ENSP00000423747.1:n.*1842A>C
NM_001291593.1:c.2492A>C	NP_001278522.1:p.Lys831Thr
NM_001291594.1:c.2495A>C	NP_001278523.1:p.Lys832Thr
NM_015102.4:c.4031A>C	NP_055917.1:p.Lys1344Thr
NR_111987.1:n.4846A>C
XM_006710563.2:c.4031A>C	XP_006710626.1:p.Lys1344Thr
XM_006710565.2:c.4031A>C	XP_006710628.1:p.Lys1344Thr
XM_011541213.1:c.4028A>C	XP_011539515.1:p.Lys1343Thr
XM_011541214.1:c.3989A>C	XP_011539516.1:p.Lys1330Thr
XM_011541215.1:c.3920A>C	XP_011539517.1:p.Lys1307Thr
XM_011541216.1:c.4031A>C	XP_011539518.1:p.Lys1344Thr
XM_011541217.1:c.4031A>C	XP_011539519.1:p.Lys1344Thr
XM_011541218.1:c.4031A>C	XP_011539520.1:p.Lys1344Thr
XM_011541219.1:c.3977A>C	XP_011539521.1:p.Lys1326Thr
XM_006710563.3:c.4031A>C	XP_006710626.1:p.Lys1344Thr
XM_011541216.2:c.4031A>C	XP_011539518.1:p.Lys1344Thr
XM_011541217.2:c.4031A>C	XP_011539519.1:p.Lys1344Thr
XM_011541218.2:c.4031A>C	XP_011539520.1:p.Lys1344Thr
XM_017000996.1:c.3986A>C	XP_016856485.1:p.Lys1329Thr
XM_017000997.1:c.4031A>C	XP_016856486.1:p.Lys1344Thr
XM_017000999.1:c.3503A>C	XP_016856488.1:p.Lys1168Thr
XM_017001000.2:c.3503A>C	XP_016856489.1:p.Lys1168Thr
XM_017001001.1:c.3233A>C	XP_016856490.1:p.Lys1078Thr
XM_017001003.1:c.2492A>C	XP_016856492.1:p.Lys831Thr
XR_001737114.1:n.3897A>C
XR_001737115.1:n.3882A>C
NM_015102.5:c.4031A>C MANE Select	NP_055917.1:p.Lys1344Thr
NM_001291593.2:c.2492A>C	NP_001278522.1:p.Lys831Thr
NM_001291594.2:c.2495A>C	NP_001278523.1:p.Lys832Thr
NR_111987.2:n.4798A>C