Canonical Allele Identifier: CA415790560

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5947470C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887410C>A , CM000663.2:g.5887410C>A	GRCh38
NC_000001.10:g.5947470C>A , CM000663.1:g.5947470C>A	GRCh37
NC_000001.9:g.5870057C>A	NCBI36
NG_011724.2:g.110062G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.2361G>T MANE Select	ENSP00000367398.4:p.Val787=
ENST00000378156.8:c.2361G>T	ENSP00000367398.4:p.Val787=
ENST00000378169.7:c.*1262G>T	ENSP00000367411.3:n.*1262G>T
ENST00000466897.1:c.590G>T
ENST00000478423.6:n.2093G>T
ENST00000489180.6:c.2358G>T	ENSP00000423747.1:p.Val786=
ENST00000622020.4:c.2358G>T	ENSP00000481831.2:p.Val786=
NM_001291593.1:c.822G>T	NP_001278522.1:p.Val274=
NM_001291594.1:c.825G>T	NP_001278523.1:p.Val275=
NM_015102.4:c.2361G>T	NP_055917.1:p.Val787=
NR_111987.1:n.2626G>T
XM_006710563.2:c.2361G>T	XP_006710626.1:p.Val787=
XM_006710565.2:c.2361G>T	XP_006710628.1:p.Val787=
XM_011541213.1:c.2358G>T	XP_011539515.1:p.Val786=
XM_011541214.1:c.2361G>T	XP_011539516.1:p.Val787=
XM_011541215.1:c.2250G>T	XP_011539517.1:p.Val750=
XM_011541216.1:c.2361G>T	XP_011539518.1:p.Val787=
XM_011541217.1:c.2361G>T	XP_011539519.1:p.Val787=
XM_011541218.1:c.2361G>T	XP_011539520.1:p.Val787=
XM_011541219.1:c.2307G>T	XP_011539521.1:p.Val769=
XM_011541220.1:c.2361G>T	XP_011539522.1:p.Val787=
XR_946604.1:n.2399G>T
XR_946605.1:n.2238G>T
XM_006710563.3:c.2361G>T	XP_006710626.1:p.Val787=
XM_011541216.2:c.2361G>T	XP_011539518.1:p.Val787=
XM_011541217.2:c.2361G>T	XP_011539519.1:p.Val787=
XM_011541218.2:c.2361G>T	XP_011539520.1:p.Val787=
XM_017000996.1:c.2358G>T	XP_016856485.1:p.Val786=
XM_017000997.1:c.2361G>T	XP_016856486.1:p.Val787=
XM_017000998.1:c.2361G>T	XP_016856487.1:p.Val787=
XM_017000999.1:c.1833G>T	XP_016856488.1:p.Val611=
XM_017001000.2:c.1833G>T	XP_016856489.1:p.Val611=
XM_017001001.1:c.1563G>T	XP_016856490.1:p.Val521=
XM_017001002.1:c.2361G>T	XP_016856491.1:p.Val787=
XM_017001003.1:c.822G>T	XP_016856492.1:p.Val274=
XR_001737114.1:n.2399G>T
XR_001737115.1:n.2399G>T
NM_015102.5:c.2361G>T MANE Select	NP_055917.1:p.Val787=
NM_001291593.2:c.822G>T	NP_001278522.1:p.Val274=
NM_001291594.2:c.825G>T	NP_001278523.1:p.Val275=
NR_111987.2:n.2578G>T