Canonical Allele Identifier: CA338049227

Gene: NPHP4

Linked Data

• dbSNP Id: rs958569972
• MyVariant Identifiers: chr1:g.5924072C>A (hg19) ; chr1:g.5864012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864012C>A , CM000663.2:g.5864012C>A	GRCh38
NC_000001.10:g.5924072C>A , CM000663.1:g.5924072C>A	GRCh37
NC_000001.9:g.5846659C>A	NCBI36
NG_011724.2:g.133460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4018G>T MANE Select	ENSP00000367398.4:p.Ala1340Ser
ENST00000378156.8:c.4018G>T	ENSP00000367398.4:p.Ala1340Ser
ENST00000378161.5:n.3169G>T
ENST00000378169.7:c.*2919G>T	ENSP00000367411.3:n.*2919G>T
ENST00000460696.1:n.2766G>T
ENST00000478423.6:n.3750G>T
ENST00000489180.6:c.*1829G>T	ENSP00000423747.1:n.*1829G>T
NM_001291593.1:c.2479G>T	NP_001278522.1:p.Ala827Ser
NM_001291594.1:c.2482G>T	NP_001278523.1:p.Ala828Ser
NM_015102.4:c.4018G>T	NP_055917.1:p.Ala1340Ser
NR_111987.1:n.4833G>T
XM_006710563.2:c.4018G>T	XP_006710626.1:p.Ala1340Ser
XM_006710565.2:c.4018G>T	XP_006710628.1:p.Ala1340Ser
XM_011541213.1:c.4015G>T	XP_011539515.1:p.Ala1339Ser
XM_011541214.1:c.3976G>T	XP_011539516.1:p.Ala1326Ser
XM_011541215.1:c.3907G>T	XP_011539517.1:p.Ala1303Ser
XM_011541216.1:c.4018G>T	XP_011539518.1:p.Ala1340Ser
XM_011541217.1:c.4018G>T	XP_011539519.1:p.Ala1340Ser
XM_011541218.1:c.4018G>T	XP_011539520.1:p.Ala1340Ser
XM_011541219.1:c.3964G>T	XP_011539521.1:p.Ala1322Ser
XM_006710563.3:c.4018G>T	XP_006710626.1:p.Ala1340Ser
XM_011541216.2:c.4018G>T	XP_011539518.1:p.Ala1340Ser
XM_011541217.2:c.4018G>T	XP_011539519.1:p.Ala1340Ser
XM_011541218.2:c.4018G>T	XP_011539520.1:p.Ala1340Ser
XM_017000996.1:c.3973G>T	XP_016856485.1:p.Ala1325Ser
XM_017000997.1:c.4018G>T	XP_016856486.1:p.Ala1340Ser
XM_017000999.1:c.3490G>T	XP_016856488.1:p.Ala1164Ser
XM_017001000.2:c.3490G>T	XP_016856489.1:p.Ala1164Ser
XM_017001001.1:c.3220G>T	XP_016856490.1:p.Ala1074Ser
XM_017001003.1:c.2479G>T	XP_016856492.1:p.Ala827Ser
XR_001737114.1:n.3884G>T
XR_001737115.1:n.3869G>T
NM_015102.5:c.4018G>T MANE Select	NP_055917.1:p.Ala1340Ser
NM_001291593.2:c.2479G>T	NP_001278522.1:p.Ala827Ser
NM_001291594.2:c.2482G>T	NP_001278523.1:p.Ala828Ser
NR_111987.2:n.4785G>T