Canonical Allele Identifier: CA338058767

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5947469C>G (hg19) ; chr1:g.5887409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887409C>G , CM000663.2:g.5887409C>G	GRCh38
NC_000001.10:g.5947469C>G , CM000663.1:g.5947469C>G	GRCh37
NC_000001.9:g.5870056C>G	NCBI36
NG_011724.2:g.110063G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.2362G>C MANE Select	ENSP00000367398.4:p.Ala788Pro
ENST00000378156.8:c.2362G>C	ENSP00000367398.4:p.Ala788Pro
ENST00000378169.7:c.*1263G>C	ENSP00000367411.3:n.*1263G>C
ENST00000466897.1:c.591G>C
ENST00000478423.6:n.2094G>C
ENST00000489180.6:c.2359G>C	ENSP00000423747.1:p.Ala787Pro
ENST00000622020.4:c.2359G>C	ENSP00000481831.2:p.Ala787Pro
NM_001291593.1:c.823G>C	NP_001278522.1:p.Ala275Pro
NM_001291594.1:c.826G>C	NP_001278523.1:p.Ala276Pro
NM_015102.4:c.2362G>C	NP_055917.1:p.Ala788Pro
NR_111987.1:n.2627G>C
XM_006710563.2:c.2362G>C	XP_006710626.1:p.Ala788Pro
XM_006710565.2:c.2362G>C	XP_006710628.1:p.Ala788Pro
XM_011541213.1:c.2359G>C	XP_011539515.1:p.Ala787Pro
XM_011541214.1:c.2362G>C	XP_011539516.1:p.Ala788Pro
XM_011541215.1:c.2251G>C	XP_011539517.1:p.Ala751Pro
XM_011541216.1:c.2362G>C	XP_011539518.1:p.Ala788Pro
XM_011541217.1:c.2362G>C	XP_011539519.1:p.Ala788Pro
XM_011541218.1:c.2362G>C	XP_011539520.1:p.Ala788Pro
XM_011541219.1:c.2308G>C	XP_011539521.1:p.Ala770Pro
XM_011541220.1:c.2362G>C	XP_011539522.1:p.Ala788Pro
XR_946604.1:n.2400G>C
XR_946605.1:n.2239G>C
XM_006710563.3:c.2362G>C	XP_006710626.1:p.Ala788Pro
XM_011541216.2:c.2362G>C	XP_011539518.1:p.Ala788Pro
XM_011541217.2:c.2362G>C	XP_011539519.1:p.Ala788Pro
XM_011541218.2:c.2362G>C	XP_011539520.1:p.Ala788Pro
XM_017000996.1:c.2359G>C	XP_016856485.1:p.Ala787Pro
XM_017000997.1:c.2362G>C	XP_016856486.1:p.Ala788Pro
XM_017000998.1:c.2362G>C	XP_016856487.1:p.Ala788Pro
XM_017000999.1:c.1834G>C	XP_016856488.1:p.Ala612Pro
XM_017001000.2:c.1834G>C	XP_016856489.1:p.Ala612Pro
XM_017001001.1:c.1564G>C	XP_016856490.1:p.Ala522Pro
XM_017001002.1:c.2362G>C	XP_016856491.1:p.Ala788Pro
XM_017001003.1:c.823G>C	XP_016856492.1:p.Ala275Pro
XR_001737114.1:n.2400G>C
XR_001737115.1:n.2400G>C
NM_015102.5:c.2362G>C MANE Select	NP_055917.1:p.Ala788Pro
NM_001291593.2:c.823G>C	NP_001278522.1:p.Ala275Pro
NM_001291594.2:c.826G>C	NP_001278523.1:p.Ala276Pro
NR_111987.2:n.2579G>C