Name: rs1491294484
Published: September 21, 2022
License: Open Access

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.

rs1491294484

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:103670570-103670571 (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: delCC
Variation Type: Deletion
Frequency: delCC=0.000415 (58/139860, GnomAD)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KLC1 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Genomes	Global	Study-wide	139860	CC=0.999585	delCC=0.000415
gnomAD - Genomes	European	Sub	75844	CC=1.00000	delCC=0.00000
gnomAD - Genomes	African	Sub	41802	CC=0.99866	delCC=0.00134
gnomAD - Genomes	American	Sub	13620	CC=0.99993	delCC=0.00007
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	CC=1.0000	delCC=0.0000
gnomAD - Genomes	East Asian	Sub	3128	CC=1.0000	delCC=0.0000
gnomAD - Genomes	Other	Sub	2148	CC=0.9995	delCC=0.0005

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 14	NC_000014.9:g.103670570_103670571del
GRCh37.p13 chr 14	NC_000014.8:g.104136907_104136908del
KLC1 RefSeqGene	NG_012307.1:g.46383_46384del

Gene: KLC1, kinesin light chain 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KLC1 transcript variant 3	NM_001130107.2:c.987+287_… NM_001130107.2:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 4	NM_001394832.1:c.987+287_… NM_001394832.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 5	NM_001394833.1:c.987+287_… NM_001394833.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 6	NM_001394834.1:c.987+287_… NM_001394834.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 7	NM_001394835.1:c.987+287_… NM_001394835.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 8	NM_001394836.1:c.987+287_… NM_001394836.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 9	NM_001394837.1:c.987+287_… NM_001394837.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 10	NM_001394838.1:c.987+287_… NM_001394838.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 11	NM_001394839.1:c.987+287_… NM_001394839.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 12	NM_001394840.1:c.987+287_… NM_001394840.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 13	NM_001394841.1:c.987+287_… NM_001394841.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 14	NM_001394842.1:c.984+287_… NM_001394842.1:c.984+287_984+288del	N/A	Intron Variant
KLC1 transcript variant 15	NM_001394843.1:c.981+287_… NM_001394843.1:c.981+287_981+288del	N/A	Intron Variant
KLC1 transcript variant 16	NM_001394844.1:c.987+287_… NM_001394844.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 17	NM_001394845.1:c.987+287_… NM_001394845.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 18	NM_001394846.1:c.987+287_… NM_001394846.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 19	NM_001394847.1:c.987+287_… NM_001394847.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 20	NM_001394848.1:c.987+287_… NM_001394848.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 21	NM_001394849.1:c.987+287_… NM_001394849.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 22	NM_001394850.1:c.987+287_… NM_001394850.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 23	NM_001394851.1:c.981+287_… NM_001394851.1:c.981+287_981+288del	N/A	Intron Variant
KLC1 transcript variant 24	NM_001394852.1:c.987+287_… NM_001394852.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 25	NM_001394853.1:c.987+287_… NM_001394853.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 26	NM_001394854.1:c.987+287_… NM_001394854.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 27	NM_001394855.1:c.987+287_… NM_001394855.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 28	NM_001394856.1:c.987+287_… NM_001394856.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 29	NM_001394857.1:c.981+287_… NM_001394857.1:c.981+287_981+288del	N/A	Intron Variant
KLC1 transcript variant 30	NM_001394858.1:c.987+287_… NM_001394858.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 31	NM_001394859.1:c.987+287_… NM_001394859.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 32	NM_001394860.1:c.987+287_… NM_001394860.1:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 1	NM_005552.5:c.987+287_987… NM_005552.5:c.987+287_987+288del	N/A	Intron Variant
KLC1 transcript variant 2	NM_182923.4:c.987+287_987… NM_182923.4:c.987+287_987+288del	N/A	Intron Variant

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

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	CC=	delCC
GRCh38.p14 chr 14	NC_000014.9:g.103670570_103670571=	NC_000014.9:g.103670570_103670571del
GRCh37.p13 chr 14	NC_000014.8:g.104136907_104136908=	NC_000014.8:g.104136907_104136908del
KLC1 RefSeqGene	NG_012307.1:g.46383_46384=	NG_012307.1:g.46383_46384del
KLC1 transcript variant 3	NM_001130107.1:c.987+287=	NM_001130107.1:c.987+287_987+288del
KLC1 transcript variant 3	NM_001130107.2:c.987+287=	NM_001130107.2:c.987+287_987+288del
KLC1 transcript variant 4	NM_001394832.1:c.987+287=	NM_001394832.1:c.987+287_987+288del
KLC1 transcript variant 5	NM_001394833.1:c.987+287=	NM_001394833.1:c.987+287_987+288del
KLC1 transcript variant 6	NM_001394834.1:c.987+287=	NM_001394834.1:c.987+287_987+288del
KLC1 transcript variant 7	NM_001394835.1:c.987+287=	NM_001394835.1:c.987+287_987+288del
KLC1 transcript variant 8	NM_001394836.1:c.987+287=	NM_001394836.1:c.987+287_987+288del
KLC1 transcript variant 9	NM_001394837.1:c.987+287=	NM_001394837.1:c.987+287_987+288del
KLC1 transcript variant 10	NM_001394838.1:c.987+287=	NM_001394838.1:c.987+287_987+288del
KLC1 transcript variant 11	NM_001394839.1:c.987+287=	NM_001394839.1:c.987+287_987+288del
KLC1 transcript variant 12	NM_001394840.1:c.987+287=	NM_001394840.1:c.987+287_987+288del
KLC1 transcript variant 13	NM_001394841.1:c.987+287=	NM_001394841.1:c.987+287_987+288del
KLC1 transcript variant 14	NM_001394842.1:c.984+287=	NM_001394842.1:c.984+287_984+288del
KLC1 transcript variant 15	NM_001394843.1:c.981+287=	NM_001394843.1:c.981+287_981+288del
KLC1 transcript variant 16	NM_001394844.1:c.987+287=	NM_001394844.1:c.987+287_987+288del
KLC1 transcript variant 17	NM_001394845.1:c.987+287=	NM_001394845.1:c.987+287_987+288del
KLC1 transcript variant 18	NM_001394846.1:c.987+287=	NM_001394846.1:c.987+287_987+288del
KLC1 transcript variant 19	NM_001394847.1:c.987+287=	NM_001394847.1:c.987+287_987+288del
KLC1 transcript variant 20	NM_001394848.1:c.987+287=	NM_001394848.1:c.987+287_987+288del
KLC1 transcript variant 21	NM_001394849.1:c.987+287=	NM_001394849.1:c.987+287_987+288del
KLC1 transcript variant 22	NM_001394850.1:c.987+287=	NM_001394850.1:c.987+287_987+288del
KLC1 transcript variant 23	NM_001394851.1:c.981+287=	NM_001394851.1:c.981+287_981+288del
KLC1 transcript variant 24	NM_001394852.1:c.987+287=	NM_001394852.1:c.987+287_987+288del
KLC1 transcript variant 25	NM_001394853.1:c.987+287=	NM_001394853.1:c.987+287_987+288del
KLC1 transcript variant 26	NM_001394854.1:c.987+287=	NM_001394854.1:c.987+287_987+288del
KLC1 transcript variant 27	NM_001394855.1:c.987+287=	NM_001394855.1:c.987+287_987+288del
KLC1 transcript variant 28	NM_001394856.1:c.987+287=	NM_001394856.1:c.987+287_987+288del
KLC1 transcript variant 29	NM_001394857.1:c.981+287=	NM_001394857.1:c.981+287_981+288del
KLC1 transcript variant 30	NM_001394858.1:c.987+287=	NM_001394858.1:c.987+287_987+288del
KLC1 transcript variant 31	NM_001394859.1:c.987+287=	NM_001394859.1:c.987+287_987+288del
KLC1 transcript variant 32	NM_001394860.1:c.987+287=	NM_001394860.1:c.987+287_987+288del
KLC1 transcript variant 1	NM_005552.4:c.987+287=	NM_005552.4:c.987+287_987+288del
KLC1 transcript variant 1	NM_005552.5:c.987+287=	NM_005552.5:c.987+287_987+288del
KLC1 transcript variant 2	NM_182923.3:c.987+287=	NM_182923.3:c.987+287_987+288del
KLC1 transcript variant 2	NM_182923.4:c.987+287=	NM_182923.4:c.987+287_987+288del
KLC1 transcript variant X1	XM_005267599.1:c.987+287=	XM_005267599.1:c.987+287_987+288del
KLC1 transcript variant X2	XM_005267600.1:c.987+287=	XM_005267600.1:c.987+287_987+288del
KLC1 transcript variant X3	XM_005267601.1:c.987+287=	XM_005267601.1:c.987+287_987+288del
KLC1 transcript variant X4	XM_005267602.1:c.987+287=	XM_005267602.1:c.987+287_987+288del
KLC1 transcript variant X5	XM_005267603.1:c.987+287=	XM_005267603.1:c.987+287_987+288del
KLC1 transcript variant X6	XM_005267604.1:c.987+287=	XM_005267604.1:c.987+287_987+288del
KLC1 transcript variant X7	XM_005267605.1:c.987+287=	XM_005267605.1:c.987+287_987+288del
KLC1 transcript variant X8	XM_005267606.1:c.987+287=	XM_005267606.1:c.987+287_987+288del
KLC1 transcript variant X9	XM_005267607.1:c.987+287=	XM_005267607.1:c.987+287_987+288del
KLC1 transcript variant X10	XM_005267608.1:c.987+287=	XM_005267608.1:c.987+287_987+288del
KLC1 transcript variant X11	XM_005267609.1:c.987+287=	XM_005267609.1:c.987+287_987+288del
KLC1 transcript variant X12	XM_005267610.1:c.987+287=	XM_005267610.1:c.987+287_987+288del
KLC1 transcript variant X13	XM_005267611.1:c.987+287=	XM_005267611.1:c.987+287_987+288del
KLC1 transcript variant X14	XM_005267612.1:c.987+287=	XM_005267612.1:c.987+287_987+288del
KLC1 transcript variant X15	XM_005267613.1:c.987+287=	XM_005267613.1:c.987+287_987+288del
KLC1 transcript variant X16	XM_005267614.1:c.987+287=	XM_005267614.1:c.987+287_987+288del
KLC1 transcript variant X17	XM_005267615.1:c.987+287=	XM_005267615.1:c.987+287_987+288del
KLC1 transcript variant X18	XM_005267616.1:c.987+287=	XM_005267616.1:c.987+287_987+288del
KLC1 transcript variant X19	XM_005267617.1:c.987+287=	XM_005267617.1:c.987+287_987+288del
KLC1 transcript variant X20	XM_005267618.1:c.987+287=	XM_005267618.1:c.987+287_987+288del
KLC1 transcript variant X21	XM_005267619.1:c.987+287=	XM_005267619.1:c.987+287_987+288del
KLC1 transcript variant X22	XM_005267620.1:c.987+287=	XM_005267620.1:c.987+287_987+288del
KLC1 transcript variant X23	XM_005267621.1:c.987+287=	XM_005267621.1:c.987+287_987+288del
KLC1 transcript variant X24	XM_005267622.1:c.987+287=	XM_005267622.1:c.987+287_987+288del
KLC1 transcript variant X25	XM_005267623.1:c.987+287=	XM_005267623.1:c.987+287_987+288del
KLC1 transcript variant X26	XM_005267624.1:c.987+287=	XM_005267624.1:c.987+287_987+288del
KLC1 transcript variant X27	XM_005267625.1:c.987+287=	XM_005267625.1:c.987+287_987+288del
KLC1 transcript variant X28	XM_005267626.1:c.987+287=	XM_005267626.1:c.987+287_987+288del
KLC1 transcript variant X29	XM_005267627.1:c.987+287=	XM_005267627.1:c.987+287_987+288del
KLC1 transcript variant X30	XM_005267628.1:c.987+287=	XM_005267628.1:c.987+287_987+288del
KLC1 transcript variant X31	XM_005267629.1:c.987+287=	XM_005267629.1:c.987+287_987+288del
KLC1 transcript variant X32	XM_005267630.1:c.987+287=	XM_005267630.1:c.987+287_987+288del
KLC1 transcript variant X33	XM_005267631.1:c.987+287=	XM_005267631.1:c.987+287_987+288del

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#.

3 SubSNP, 1 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2931897804	Jan 10, 2018 (151)
2	HUGCELL_USP	ss5491454753	Oct 17, 2022 (156)
3	SANFORD_IMAGENETICS	ss5656965162	Oct 17, 2022 (156)
4	gnomAD - Genomes	NC_000014.9 - 103670570	Apr 27, 2021 (155)

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
ss2931897804, ss5656965162	NC_000014.8:104136906:CC:	NC_000014.9:103670569:CC:	(self)
461883454, ss5491454753	NC_000014.9:103670569:CC:	NC_000014.9:103670569:CC:	(self)

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

No publications for rs1491294484

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491294484