Canonical Allele Identifier: CA338049033

Gene: NPHP4

Linked Data

• dbSNP Id: rs1640911073
• gnomAD v3: 1-5863966-G-A
• gnomAD v4: 1-5863966-G-A
• MyVariant Identifiers: chr1:g.5924026G>A (hg19) ; chr1:g.5863966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863966G>A , CM000663.2:g.5863966G>A	GRCh38
NC_000001.10:g.5924026G>A , CM000663.1:g.5924026G>A	GRCh37
NC_000001.9:g.5846613G>A	NCBI36
NG_011724.2:g.133506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4064C>T MANE Select	ENSP00000367398.4:p.Pro1355Leu
ENST00000378156.8:c.4064C>T	ENSP00000367398.4:p.Pro1355Leu
ENST00000378161.5:n.3215C>T
ENST00000378169.7:c.*2965C>T	ENSP00000367411.3:n.*2965C>T
ENST00000460696.1:n.2812C>T
ENST00000478423.6:n.3796C>T
ENST00000489180.6:c.*1875C>T	ENSP00000423747.1:n.*1875C>T
NM_001291593.1:c.2525C>T	NP_001278522.1:p.Pro842Leu
NM_001291594.1:c.2528C>T	NP_001278523.1:p.Pro843Leu
NM_015102.4:c.4064C>T	NP_055917.1:p.Pro1355Leu
NR_111987.1:n.4879C>T
XM_006710563.2:c.4064C>T	XP_006710626.1:p.Pro1355Leu
XM_006710565.2:c.4064C>T	XP_006710628.1:p.Pro1355Leu
XM_011541213.1:c.4061C>T	XP_011539515.1:p.Pro1354Leu
XM_011541214.1:c.4022C>T	XP_011539516.1:p.Pro1341Leu
XM_011541215.1:c.3953C>T	XP_011539517.1:p.Pro1318Leu
XM_011541216.1:c.4064C>T	XP_011539518.1:p.Pro1355Leu
XM_011541217.1:c.4064C>T	XP_011539519.1:p.Pro1355Leu
XM_011541218.1:c.4064C>T	XP_011539520.1:p.Pro1355Leu
XM_011541219.1:c.4010C>T	XP_011539521.1:p.Pro1337Leu
XM_006710563.3:c.4064C>T	XP_006710626.1:p.Pro1355Leu
XM_011541216.2:c.4064C>T	XP_011539518.1:p.Pro1355Leu
XM_011541217.2:c.4064C>T	XP_011539519.1:p.Pro1355Leu
XM_011541218.2:c.4064C>T	XP_011539520.1:p.Pro1355Leu
XM_017000996.1:c.4019C>T	XP_016856485.1:p.Pro1340Leu
XM_017000997.1:c.4064C>T	XP_016856486.1:p.Pro1355Leu
XM_017000999.1:c.3536C>T	XP_016856488.1:p.Pro1179Leu
XM_017001000.2:c.3536C>T	XP_016856489.1:p.Pro1179Leu
XM_017001001.1:c.3266C>T	XP_016856490.1:p.Pro1089Leu
XM_017001003.1:c.2525C>T	XP_016856492.1:p.Pro842Leu
XR_001737114.1:n.3930C>T
XR_001737115.1:n.3915C>T
NM_015102.5:c.4064C>T MANE Select	NP_055917.1:p.Pro1355Leu
NM_001291593.2:c.2525C>T	NP_001278522.1:p.Pro842Leu
NM_001291594.2:c.2528C>T	NP_001278523.1:p.Pro843Leu
NR_111987.2:n.4831C>T