Canonical Allele Identifier: CA338049277

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924084T>G (hg19) ; chr1:g.5864024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864024T>G , CM000663.2:g.5864024T>G	GRCh38
NC_000001.10:g.5924084T>G , CM000663.1:g.5924084T>G	GRCh37
NC_000001.9:g.5846671T>G	NCBI36
NG_011724.2:g.133448A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4006A>C MANE Select	ENSP00000367398.4:p.Ile1336Leu
ENST00000378156.8:c.4006A>C	ENSP00000367398.4:p.Ile1336Leu
ENST00000378161.5:n.3157A>C
ENST00000378169.7:c.*2907A>C	ENSP00000367411.3:n.*2907A>C
ENST00000460696.1:n.2754A>C
ENST00000478423.6:n.3738A>C
ENST00000489180.6:c.*1817A>C	ENSP00000423747.1:n.*1817A>C
NM_001291593.1:c.2467A>C	NP_001278522.1:p.Ile823Leu
NM_001291594.1:c.2470A>C	NP_001278523.1:p.Ile824Leu
NM_015102.4:c.4006A>C	NP_055917.1:p.Ile1336Leu
NR_111987.1:n.4821A>C
XM_006710563.2:c.4006A>C	XP_006710626.1:p.Ile1336Leu
XM_006710565.2:c.4006A>C	XP_006710628.1:p.Ile1336Leu
XM_011541213.1:c.4003A>C	XP_011539515.1:p.Ile1335Leu
XM_011541214.1:c.3964A>C	XP_011539516.1:p.Ile1322Leu
XM_011541215.1:c.3895A>C	XP_011539517.1:p.Ile1299Leu
XM_011541216.1:c.4006A>C	XP_011539518.1:p.Ile1336Leu
XM_011541217.1:c.4006A>C	XP_011539519.1:p.Ile1336Leu
XM_011541218.1:c.4006A>C	XP_011539520.1:p.Ile1336Leu
XM_011541219.1:c.3952A>C	XP_011539521.1:p.Ile1318Leu
XM_006710563.3:c.4006A>C	XP_006710626.1:p.Ile1336Leu
XM_011541216.2:c.4006A>C	XP_011539518.1:p.Ile1336Leu
XM_011541217.2:c.4006A>C	XP_011539519.1:p.Ile1336Leu
XM_011541218.2:c.4006A>C	XP_011539520.1:p.Ile1336Leu
XM_017000996.1:c.3961A>C	XP_016856485.1:p.Ile1321Leu
XM_017000997.1:c.4006A>C	XP_016856486.1:p.Ile1336Leu
XM_017000999.1:c.3478A>C	XP_016856488.1:p.Ile1160Leu
XM_017001000.2:c.3478A>C	XP_016856489.1:p.Ile1160Leu
XM_017001001.1:c.3208A>C	XP_016856490.1:p.Ile1070Leu
XM_017001003.1:c.2467A>C	XP_016856492.1:p.Ile823Leu
XR_001737114.1:n.3872A>C
XR_001737115.1:n.3857A>C
NM_015102.5:c.4006A>C MANE Select	NP_055917.1:p.Ile1336Leu
NM_001291593.2:c.2467A>C	NP_001278522.1:p.Ile823Leu
NM_001291594.2:c.2470A>C	NP_001278523.1:p.Ile824Leu
NR_111987.2:n.4773A>C