Canonical Allele Identifier: CA554143

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 1051187
• ClinVar RCV Id: RCV001359191
• dbSNP Id: rs753373132
• ExAC: 1:5947472 C / T
• gnomAD v2: 1-5947472-C-T
• gnomAD v3: 1-5887412-C-T
• gnomAD v4: 1-5887412-C-T
• MyVariant Identifiers: chr1:g.5947472C>T (hg19) ; chr1:g.5887412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5887412C>T , CM000663.2:g.5887412C>T	GRCh38
NC_000001.10:g.5947472C>T , CM000663.1:g.5947472C>T	GRCh37
NC_000001.9:g.5870059C>T	NCBI36
NG_011724.2:g.110060G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.2359G>A MANE Select	ENSP00000367398.4:p.Val787Met
ENST00000378156.8:c.2359G>A	ENSP00000367398.4:p.Val787Met
ENST00000378169.7:c.*1260G>A	ENSP00000367411.3:n.*1260G>A
ENST00000466897.1:c.588G>A
ENST00000478423.6:n.2091G>A
ENST00000489180.6:c.2356G>A	ENSP00000423747.1:p.Val786Met
ENST00000622020.4:c.2356G>A	ENSP00000481831.2:p.Val786Met
NM_001291593.1:c.820G>A	NP_001278522.1:p.Val274Met
NM_001291594.1:c.823G>A	NP_001278523.1:p.Val275Met
NM_015102.4:c.2359G>A	NP_055917.1:p.Val787Met
NR_111987.1:n.2624G>A
XM_006710563.2:c.2359G>A	XP_006710626.1:p.Val787Met
XM_006710565.2:c.2359G>A	XP_006710628.1:p.Val787Met
XM_011541213.1:c.2356G>A	XP_011539515.1:p.Val786Met
XM_011541214.1:c.2359G>A	XP_011539516.1:p.Val787Met
XM_011541215.1:c.2248G>A	XP_011539517.1:p.Val750Met
XM_011541216.1:c.2359G>A	XP_011539518.1:p.Val787Met
XM_011541217.1:c.2359G>A	XP_011539519.1:p.Val787Met
XM_011541218.1:c.2359G>A	XP_011539520.1:p.Val787Met
XM_011541219.1:c.2305G>A	XP_011539521.1:p.Val769Met
XM_011541220.1:c.2359G>A	XP_011539522.1:p.Val787Met
XR_946604.1:n.2397G>A
XR_946605.1:n.2236G>A
XM_006710563.3:c.2359G>A	XP_006710626.1:p.Val787Met
XM_011541216.2:c.2359G>A	XP_011539518.1:p.Val787Met
XM_011541217.2:c.2359G>A	XP_011539519.1:p.Val787Met
XM_011541218.2:c.2359G>A	XP_011539520.1:p.Val787Met
XM_017000996.1:c.2356G>A	XP_016856485.1:p.Val786Met
XM_017000997.1:c.2359G>A	XP_016856486.1:p.Val787Met
XM_017000998.1:c.2359G>A	XP_016856487.1:p.Val787Met
XM_017000999.1:c.1831G>A	XP_016856488.1:p.Val611Met
XM_017001000.2:c.1831G>A	XP_016856489.1:p.Val611Met
XM_017001001.1:c.1561G>A	XP_016856490.1:p.Val521Met
XM_017001002.1:c.2359G>A	XP_016856491.1:p.Val787Met
XM_017001003.1:c.820G>A	XP_016856492.1:p.Val274Met
XR_001737114.1:n.2397G>A
XR_001737115.1:n.2397G>A
NM_015102.5:c.2359G>A MANE Select	NP_055917.1:p.Val787Met
NM_001291593.2:c.820G>A	NP_001278522.1:p.Val274Met
NM_001291594.2:c.823G>A	NP_001278523.1:p.Val275Met
NR_111987.2:n.2576G>A