Canonical Allele Identifier: CA338058827

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5947498A>G (hg19) ; chr1:g.5887438A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887438A>G , CM000663.2:g.5887438A>G	GRCh38
NC_000001.10:g.5947498A>G , CM000663.1:g.5947498A>G	GRCh37
NC_000001.9:g.5870085A>G	NCBI36
NG_011724.2:g.110034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.2333T>C MANE Select	ENSP00000367398.4:p.Val778Ala
ENST00000378156.8:c.2333T>C	ENSP00000367398.4:p.Val778Ala
ENST00000378169.7:c.*1234T>C	ENSP00000367411.3:n.*1234T>C
ENST00000466897.1:c.562T>C
ENST00000478423.6:n.2065T>C
ENST00000489180.6:c.2330T>C	ENSP00000423747.1:p.Val777Ala
ENST00000622020.4:c.2330T>C	ENSP00000481831.2:p.Val777Ala
NM_001291593.1:c.794T>C	NP_001278522.1:p.Val265Ala
NM_001291594.1:c.797T>C	NP_001278523.1:p.Val266Ala
NM_015102.4:c.2333T>C	NP_055917.1:p.Val778Ala
NR_111987.1:n.2598T>C
XM_006710563.2:c.2333T>C	XP_006710626.1:p.Val778Ala
XM_006710565.2:c.2333T>C	XP_006710628.1:p.Val778Ala
XM_011541213.1:c.2330T>C	XP_011539515.1:p.Val777Ala
XM_011541214.1:c.2333T>C	XP_011539516.1:p.Val778Ala
XM_011541215.1:c.2222T>C	XP_011539517.1:p.Val741Ala
XM_011541216.1:c.2333T>C	XP_011539518.1:p.Val778Ala
XM_011541217.1:c.2333T>C	XP_011539519.1:p.Val778Ala
XM_011541218.1:c.2333T>C	XP_011539520.1:p.Val778Ala
XM_011541219.1:c.2279T>C	XP_011539521.1:p.Val760Ala
XM_011541220.1:c.2333T>C	XP_011539522.1:p.Val778Ala
XR_946604.1:n.2371T>C
XR_946605.1:n.2210T>C
XM_006710563.3:c.2333T>C	XP_006710626.1:p.Val778Ala
XM_011541216.2:c.2333T>C	XP_011539518.1:p.Val778Ala
XM_011541217.2:c.2333T>C	XP_011539519.1:p.Val778Ala
XM_011541218.2:c.2333T>C	XP_011539520.1:p.Val778Ala
XM_017000996.1:c.2330T>C	XP_016856485.1:p.Val777Ala
XM_017000997.1:c.2333T>C	XP_016856486.1:p.Val778Ala
XM_017000998.1:c.2333T>C	XP_016856487.1:p.Val778Ala
XM_017000999.1:c.1805T>C	XP_016856488.1:p.Val602Ala
XM_017001000.2:c.1805T>C	XP_016856489.1:p.Val602Ala
XM_017001001.1:c.1535T>C	XP_016856490.1:p.Val512Ala
XM_017001002.1:c.2333T>C	XP_016856491.1:p.Val778Ala
XM_017001003.1:c.794T>C	XP_016856492.1:p.Val265Ala
XR_001737114.1:n.2371T>C
XR_001737115.1:n.2371T>C
NM_015102.5:c.2333T>C MANE Select	NP_055917.1:p.Val778Ala
NM_001291593.2:c.794T>C	NP_001278522.1:p.Val265Ala
NM_001291594.2:c.797T>C	NP_001278523.1:p.Val266Ala
NR_111987.2:n.2550T>C