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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1466543728

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:3013765 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/250682, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GRK4 : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 250682 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135160 G=0.999993 A=0.000007
gnomAD - Exomes Asian Sub 48756 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34350 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16248 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10070 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6098 G=1.0000 A=0.0000
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 4 NC_000004.12:g.3013765G>A
GRCh37.p13 chr 4 NC_000004.11:g.3015492G>A
GRK4 RefSeqGene NG_029102.1:g.55150G>A
Gene: GRK4, G protein-coupled receptor kinase 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GRK4 transcript variant 1 NM_182982.3:c.678G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform alpha NP_892027.2:p.Arg226= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant 3 NM_001004057.2:c.678G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform gamma NP_001004057.1:p.Arg226= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant 5 NM_001350173.2:c.96G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform 5 NP_001337102.1:p.Arg32= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant 4 NM_005307.3:c.582G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform delta NP_005298.2:p.Arg194= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant 2 NM_001004056.2:c.582G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform beta NP_001004056.1:p.Arg194= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X1 XM_011513447.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X1 XP_011511749.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X2 XM_011513448.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X2 XP_011511750.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X3 XM_017008052.2:c.717G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X3 XP_016863541.1:p.Arg239= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X4 XM_017008053.2:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X4 XP_016863542.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X5 XM_011513449.3:c.699G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X5 XP_011511751.1:p.Arg233= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X6 XM_011513450.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X6 XP_011511752.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X7 XM_011513451.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X7 XP_011511753.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X8 XM_011513452.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X8 XP_011511754.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X9 XM_011513454.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X9 XP_011511756.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X10 XM_011513453.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X10 XP_011511755.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X12 XM_017008054.2:c.678G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X11 XP_016863543.1:p.Arg226= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X13 XM_011513455.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X12 XP_011511757.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X14 XM_017008055.2:c.582G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X13 XP_016863544.1:p.Arg194= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X15 XM_017008056.2:c.678G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X14 XP_016863545.1:p.Arg226= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X16 XM_011513456.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X15 XP_011511758.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X18 XM_047450124.1:c.96G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X16 XP_047306080.1:p.Arg32= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X19 XM_047450125.1:c.45G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X17 XP_047306081.1:p.Arg15= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X20 XM_005247962.4:c.45G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X17 XP_005248019.1:p.Arg15= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X21 XM_047450126.1:c.45G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X17 XP_047306082.1:p.Arg15= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X22 XM_011513457.3:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X18 XP_011511759.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X23 XM_047450127.1:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X19 XP_047306083.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X24 XM_047450128.1:c.795G>A R [AGG] > R [AGA] Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X19 XP_047306084.1:p.Arg265= R (Arg) > R (Arg) Synonymous Variant
GRK4 transcript variant X11 XR_924941.3:n.1295G>A N/A Non Coding Transcript Variant
GRK4 transcript variant X17 XR_001741210.2:n.1295G>A N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p14 chr 4 NC_000004.12:g.3013765= NC_000004.12:g.3013765G>A
GRCh37.p13 chr 4 NC_000004.11:g.3015492= NC_000004.11:g.3015492G>A
GRK4 RefSeqGene NG_029102.1:g.55150= NG_029102.1:g.55150G>A
GRK4 transcript variant 1 NM_182982.3:c.678= NM_182982.3:c.678G>A
GRK4 transcript variant 1 NM_182982.2:c.678= NM_182982.2:c.678G>A
GRK4 transcript variant 4 NM_005307.3:c.582= NM_005307.3:c.582G>A
GRK4 transcript variant 4 NM_005307.2:c.582= NM_005307.2:c.582G>A
GRK4 transcript variant 2 NM_005307.1:c.582= NM_005307.1:c.582G>A
GRK4 transcript variant 2 NM_001004056.2:c.582= NM_001004056.2:c.582G>A
GRK4 transcript variant 2 NM_001004056.1:c.582= NM_001004056.1:c.582G>A
GRK4 transcript variant 3 NM_001004057.2:c.678= NM_001004057.2:c.678G>A
GRK4 transcript variant 3 NM_001004057.1:c.678= NM_001004057.1:c.678G>A
GRK4 transcript variant 5 NM_001350173.2:c.96= NM_001350173.2:c.96G>A
GRK4 transcript variant 5 NM_001350173.1:c.96= NM_001350173.1:c.96G>A
GRK4 transcript variant X20 XM_005247962.4:c.45= XM_005247962.4:c.45G>A
GRK4 transcript variant X23 XM_005247962.3:c.45= XM_005247962.3:c.45G>A
GRK4 transcript variant X12 XM_005247962.2:c.45= XM_005247962.2:c.45G>A
GRK4 transcript variant X6 XM_005247962.1:c.45= XM_005247962.1:c.45G>A
GRK4 transcript variant X2 XM_011513448.3:c.795= XM_011513448.3:c.795G>A
GRK4 transcript variant X2 XM_011513448.2:c.795= XM_011513448.2:c.795G>A
GRK4 transcript variant X2 XM_011513448.1:c.795= XM_011513448.1:c.795G>A
GRK4 transcript variant X8 XM_011513452.3:c.795= XM_011513452.3:c.795G>A
GRK4 transcript variant X8 XM_011513452.2:c.795= XM_011513452.2:c.795G>A
GRK4 transcript variant X6 XM_011513452.1:c.795= XM_011513452.1:c.795G>A
GRK4 transcript variant X1 XM_011513447.3:c.795= XM_011513447.3:c.795G>A
GRK4 transcript variant X1 XM_011513447.2:c.795= XM_011513447.2:c.795G>A
GRK4 transcript variant X1 XM_011513447.1:c.795= XM_011513447.1:c.795G>A
GRK4 transcript variant X5 XM_011513449.3:c.699= XM_011513449.3:c.699G>A
GRK4 transcript variant X5 XM_011513449.2:c.699= XM_011513449.2:c.699G>A
GRK4 transcript variant X3 XM_011513449.1:c.699= XM_011513449.1:c.699G>A
GRK4 transcript variant X7 XM_011513451.3:c.795= XM_011513451.3:c.795G>A
GRK4 transcript variant X7 XM_011513451.2:c.795= XM_011513451.2:c.795G>A
GRK4 transcript variant X5 XM_011513451.1:c.795= XM_011513451.1:c.795G>A
GRK4 transcript variant X6 XM_011513450.3:c.795= XM_011513450.3:c.795G>A
GRK4 transcript variant X6 XM_011513450.2:c.795= XM_011513450.2:c.795G>A
GRK4 transcript variant X4 XM_011513450.1:c.795= XM_011513450.1:c.795G>A
GRK4 transcript variant X11 XR_924941.3:n.1295= XR_924941.3:n.1295G>A
GRK4 transcript variant X11 XR_924941.2:n.1362= XR_924941.2:n.1362G>A
GRK4 transcript variant X9 XR_924941.1:n.1361= XR_924941.1:n.1361G>A
GRK4 transcript variant X9 XM_011513454.3:c.795= XM_011513454.3:c.795G>A
GRK4 transcript variant X10 XM_011513454.2:c.795= XM_011513454.2:c.795G>A
GRK4 transcript variant X8 XM_011513454.1:c.795= XM_011513454.1:c.795G>A
GRK4 transcript variant X10 XM_011513453.3:c.795= XM_011513453.3:c.795G>A
GRK4 transcript variant X9 XM_011513453.2:c.795= XM_011513453.2:c.795G>A
GRK4 transcript variant X7 XM_011513453.1:c.795= XM_011513453.1:c.795G>A
GRK4 transcript variant X13 XM_011513455.3:c.795= XM_011513455.3:c.795G>A
GRK4 transcript variant X13 XM_011513455.2:c.795= XM_011513455.2:c.795G>A
GRK4 transcript variant X10 XM_011513455.1:c.795= XM_011513455.1:c.795G>A
GRK4 transcript variant X16 XM_011513456.3:c.795= XM_011513456.3:c.795G>A
GRK4 transcript variant X16 XM_011513456.2:c.795= XM_011513456.2:c.795G>A
GRK4 transcript variant X11 XM_011513456.1:c.795= XM_011513456.1:c.795G>A
GRK4 transcript variant X22 XM_011513457.3:c.795= XM_011513457.3:c.795G>A
GRK4 transcript variant X27 XM_011513457.2:c.795= XM_011513457.2:c.795G>A
GRK4 transcript variant X14 XM_011513457.1:c.795= XM_011513457.1:c.795G>A
GRK4 transcript variant X3 XM_017008052.2:c.717= XM_017008052.2:c.717G>A
GRK4 transcript variant X3 XM_017008052.1:c.717= XM_017008052.1:c.717G>A
GRK4 transcript variant X4 XM_017008053.2:c.795= XM_017008053.2:c.795G>A
GRK4 transcript variant X4 XM_017008053.1:c.795= XM_017008053.1:c.795G>A
GRK4 transcript variant X12 XM_017008054.2:c.678= XM_017008054.2:c.678G>A
GRK4 transcript variant X12 XM_017008054.1:c.678= XM_017008054.1:c.678G>A
GRK4 transcript variant X14 XM_017008055.2:c.582= XM_017008055.2:c.582G>A
GRK4 transcript variant X14 XM_017008055.1:c.582= XM_017008055.1:c.582G>A
GRK4 transcript variant X15 XM_017008056.2:c.678= XM_017008056.2:c.678G>A
GRK4 transcript variant X15 XM_017008056.1:c.678= XM_017008056.1:c.678G>A
GRK4 transcript variant X17 XR_001741210.2:n.1295= XR_001741210.2:n.1295G>A
GRK4 transcript variant X17 XR_001741210.1:n.1362= XR_001741210.1:n.1362G>A
GRK4 transcript variant X21 XM_047450126.1:c.45= XM_047450126.1:c.45G>A
GRK4 transcript variant X19 XM_047450125.1:c.45= XM_047450125.1:c.45G>A
GRK4 transcript variant X23 XM_047450127.1:c.795= XM_047450127.1:c.795G>A
GRK4 transcript variant X18 XM_047450124.1:c.96= XM_047450124.1:c.96G>A
GRK4 transcript variant X24 XM_047450128.1:c.795= XM_047450128.1:c.795G>A
G protein-coupled receptor kinase 4 isoform alpha NP_892027.2:p.Arg226= NP_892027.2:p.Arg226=
G protein-coupled receptor kinase 4 isoform delta NP_005298.2:p.Arg194= NP_005298.2:p.Arg194=
G protein-coupled receptor kinase 4 isoform beta NP_001004056.1:p.Arg194= NP_001004056.1:p.Arg194=
G protein-coupled receptor kinase 4 isoform gamma NP_001004057.1:p.Arg226= NP_001004057.1:p.Arg226=
G protein-coupled receptor kinase 4 isoform 5 NP_001337102.1:p.Arg32= NP_001337102.1:p.Arg32=
G protein-coupled receptor kinase 4 isoform X17 XP_005248019.1:p.Arg15= XP_005248019.1:p.Arg15=
G protein-coupled receptor kinase 4 isoform X2 XP_011511750.1:p.Arg265= XP_011511750.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X8 XP_011511754.1:p.Arg265= XP_011511754.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X1 XP_011511749.1:p.Arg265= XP_011511749.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X5 XP_011511751.1:p.Arg233= XP_011511751.1:p.Arg233=
G protein-coupled receptor kinase 4 isoform X7 XP_011511753.1:p.Arg265= XP_011511753.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X6 XP_011511752.1:p.Arg265= XP_011511752.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X9 XP_011511756.1:p.Arg265= XP_011511756.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X10 XP_011511755.1:p.Arg265= XP_011511755.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X12 XP_011511757.1:p.Arg265= XP_011511757.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X15 XP_011511758.1:p.Arg265= XP_011511758.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X18 XP_011511759.1:p.Arg265= XP_011511759.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X3 XP_016863541.1:p.Arg239= XP_016863541.1:p.Arg239=
G protein-coupled receptor kinase 4 isoform X4 XP_016863542.1:p.Arg265= XP_016863542.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X11 XP_016863543.1:p.Arg226= XP_016863543.1:p.Arg226=
G protein-coupled receptor kinase 4 isoform X13 XP_016863544.1:p.Arg194= XP_016863544.1:p.Arg194=
G protein-coupled receptor kinase 4 isoform X14 XP_016863545.1:p.Arg226= XP_016863545.1:p.Arg226=
G protein-coupled receptor kinase 4 isoform X17 XP_047306082.1:p.Arg15= XP_047306082.1:p.Arg15=
G protein-coupled receptor kinase 4 isoform X17 XP_047306081.1:p.Arg15= XP_047306081.1:p.Arg15=
G protein-coupled receptor kinase 4 isoform X19 XP_047306083.1:p.Arg265= XP_047306083.1:p.Arg265=
G protein-coupled receptor kinase 4 isoform X16 XP_047306080.1:p.Arg32= XP_047306080.1:p.Arg32=
G protein-coupled receptor kinase 4 isoform X19 XP_047306084.1:p.Arg265= XP_047306084.1:p.Arg265=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2734364554 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000004.11 - 3015492 Jul 13, 2019 (153)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3464775, ss2734364554 NC_000004.11:3015491:G:A NC_000004.12:3013764:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1466543728

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d