Canonical Allele Identifier: CA338049246

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924077A>T (hg19) ; chr1:g.5864017A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864017A>T , CM000663.2:g.5864017A>T	GRCh38
NC_000001.10:g.5924077A>T , CM000663.1:g.5924077A>T	GRCh37
NC_000001.9:g.5846664A>T	NCBI36
NG_011724.2:g.133455T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4013T>A MANE Select	ENSP00000367398.4:p.Leu1338Ter
ENST00000378156.8:c.4013T>A	ENSP00000367398.4:p.Leu1338Ter
ENST00000378161.5:n.3164T>A
ENST00000378169.7:c.*2914T>A	ENSP00000367411.3:n.*2914T>A
ENST00000460696.1:n.2761T>A
ENST00000478423.6:n.3745T>A
ENST00000489180.6:c.*1824T>A	ENSP00000423747.1:n.*1824T>A
NM_001291593.1:c.2474T>A	NP_001278522.1:p.Leu825Ter
NM_001291594.1:c.2477T>A	NP_001278523.1:p.Leu826Ter
NM_015102.4:c.4013T>A	NP_055917.1:p.Leu1338Ter
NR_111987.1:n.4828T>A
XM_006710563.2:c.4013T>A	XP_006710626.1:p.Leu1338Ter
XM_006710565.2:c.4013T>A	XP_006710628.1:p.Leu1338Ter
XM_011541213.1:c.4010T>A	XP_011539515.1:p.Leu1337Ter
XM_011541214.1:c.3971T>A	XP_011539516.1:p.Leu1324Ter
XM_011541215.1:c.3902T>A	XP_011539517.1:p.Leu1301Ter
XM_011541216.1:c.4013T>A	XP_011539518.1:p.Leu1338Ter
XM_011541217.1:c.4013T>A	XP_011539519.1:p.Leu1338Ter
XM_011541218.1:c.4013T>A	XP_011539520.1:p.Leu1338Ter
XM_011541219.1:c.3959T>A	XP_011539521.1:p.Leu1320Ter
XM_006710563.3:c.4013T>A	XP_006710626.1:p.Leu1338Ter
XM_011541216.2:c.4013T>A	XP_011539518.1:p.Leu1338Ter
XM_011541217.2:c.4013T>A	XP_011539519.1:p.Leu1338Ter
XM_011541218.2:c.4013T>A	XP_011539520.1:p.Leu1338Ter
XM_017000996.1:c.3968T>A	XP_016856485.1:p.Leu1323Ter
XM_017000997.1:c.4013T>A	XP_016856486.1:p.Leu1338Ter
XM_017000999.1:c.3485T>A	XP_016856488.1:p.Leu1162Ter
XM_017001000.2:c.3485T>A	XP_016856489.1:p.Leu1162Ter
XM_017001001.1:c.3215T>A	XP_016856490.1:p.Leu1072Ter
XM_017001003.1:c.2474T>A	XP_016856492.1:p.Leu825Ter
XR_001737114.1:n.3879T>A
XR_001737115.1:n.3864T>A
NM_015102.5:c.4013T>A MANE Select	NP_055917.1:p.Leu1338Ter
NM_001291593.2:c.2474T>A	NP_001278522.1:p.Leu825Ter
NM_001291594.2:c.2477T>A	NP_001278523.1:p.Leu826Ter
NR_111987.2:n.4780T>A