Canonical Allele Identifier: CA10606304

Gene: NPHP4

Linked Data

• ClinVar Variation Id: 289039
• ClinVar RCV Id: RCV000312350 ; RCV002518063
• dbSNP Id: rs886044065
• MyVariant Identifiers: chr1:g.6038346C>T (hg19) ; chr1:g.5978286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5978286C>T , CM000663.2:g.5978286C>T	GRCh38
NC_000001.10:g.6038346C>T , CM000663.1:g.6038346C>T	GRCh37
NC_000001.9:g.5960933C>T	NCBI36
NG_011724.2:g.19186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.263G>A MANE Select	ENSP00000367398.4:p.Arg88Lys
ENST00000378156.8:c.263G>A	ENSP00000367398.4:p.Arg88Lys
ENST00000378169.7:c.263G>A	ENSP00000367411.3:p.Arg88Lys
ENST00000478423.6:n.182-9027G>A
ENST00000489180.6:c.263G>A	ENSP00000423747.1:p.Arg88Lys
ENST00000622020.4:c.263G>A	ENSP00000481831.2:p.Arg88Lys
NM_001291593.1:c.-967G>A	NP_001278522.1:n.-967G>A
NM_001291594.1:c.-1087-9027G>A	NP_001278523.1:n.-1087-9027G>A
NM_015102.4:c.263G>A	NP_055917.1:p.Arg88Lys
NR_111987.1:n.531G>A
XM_006710563.2:c.263G>A	XP_006710626.1:p.Arg88Lys
XM_006710565.2:c.263G>A	XP_006710628.1:p.Arg88Lys
XM_011541213.1:c.263G>A	XP_011539515.1:p.Arg88Lys
XM_011541214.1:c.263G>A	XP_011539516.1:p.Arg88Lys
XM_011541215.1:c.263G>A	XP_011539517.1:p.Arg88Lys
XM_011541216.1:c.263G>A	XP_011539518.1:p.Arg88Lys
XM_011541217.1:c.263G>A	XP_011539519.1:p.Arg88Lys
XM_011541218.1:c.263G>A	XP_011539520.1:p.Arg88Lys
XM_011541219.1:c.209G>A	XP_011539521.1:p.Arg70Lys
XM_011541220.1:c.263G>A	XP_011539522.1:p.Arg88Lys
XR_946604.1:n.301G>A
XR_946605.1:n.301G>A
XM_006710563.3:c.263G>A	XP_006710626.1:p.Arg88Lys
XM_011541216.2:c.263G>A	XP_011539518.1:p.Arg88Lys
XM_011541217.2:c.263G>A	XP_011539519.1:p.Arg88Lys
XM_011541218.2:c.263G>A	XP_011539520.1:p.Arg88Lys
XM_017000996.1:c.263G>A	XP_016856485.1:p.Arg88Lys
XM_017000997.1:c.263G>A	XP_016856486.1:p.Arg88Lys
XM_017000998.1:c.263G>A	XP_016856487.1:p.Arg88Lys
XM_017000999.1:c.-266G>A	XP_016856488.1:n.-266G>A
XM_017001000.2:c.-323G>A	XP_016856489.1:n.-323G>A
XM_017001002.1:c.263G>A	XP_016856491.1:p.Arg88Lys
XR_001737114.1:n.301G>A
XR_001737115.1:n.301G>A
NM_015102.5:c.263G>A MANE Select	NP_055917.1:p.Arg88Lys
NM_001291593.2:c.-967G>A	NP_001278522.1:n.-967G>A
NM_001291594.2:c.-1087-9027G>A	NP_001278523.1:n.-1087-9027G>A
NR_111987.2:n.483G>A