Name: rs1005241118
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.

rs1005241118

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:50584619-50584624 (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: delGG / delG / dupG / dup(G)₆
Variation Type: Indel Insertion and Deletion
Frequency: delGG=0.00000 (0/14046, ALFA)
delG=0.00000 (0/14046, ALFA)
dupG=0.00000 (0/14046, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CACNA1G : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	14046	GGGGGG=1.00000	GGGG=0.00000, GGGGG=0.00000, GGGGGGG=0.00000	1.0	N/A
European	Sub	9688	GGGGGG=1.0000	GGGG=0.0000, GGGGG=0.0000, GGGGGGG=0.0000	1.0	N/A
African	Sub	2898	GGGGGG=1.0000	GGGG=0.0000, GGGGG=0.0000, GGGGGGG=0.0000	1.0	N/A
African Others	Sub	114	GGGGGG=1.000	GGGG=0.000, GGGGG=0.000, GGGGGGG=0.000	1.0	N/A
African American	Sub	2784	GGGGGG=1.0000	GGGG=0.0000, GGGGG=0.0000, GGGGGGG=0.0000	1.0	N/A
Asian	Sub	112	GGGGGG=1.000	GGGG=0.000, GGGGG=0.000, GGGGGGG=0.000	1.0	N/A
East Asian	Sub	86	GGGGGG=1.00	GGGG=0.00, GGGGG=0.00, GGGGGGG=0.00	1.0	N/A
Other Asian	Sub	26	GGGGGG=1.00	GGGG=0.00, GGGGG=0.00, GGGGGGG=0.00	1.0	N/A
Latin American 1	Sub	146	GGGGGG=1.000	GGGG=0.000, GGGGG=0.000, GGGGGGG=0.000	1.0	N/A
Latin American 2	Sub	608	GGGGGG=1.000	GGGG=0.000, GGGGG=0.000, GGGGGGG=0.000	1.0	N/A
South Asian	Sub	98	GGGGGG=1.00	GGGG=0.00, GGGGG=0.00, GGGGGGG=0.00	1.0	N/A
Other	Sub	496	GGGGGG=1.000	GGGG=0.000, GGGGG=0.000, GGGGGGG=0.000	1.0	N/A

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
Allele Frequency Aggregator	Total	Global	14046	(G)₆=1.00000	delGG=0.00000, delG=0.00000, dupG=0.00000
Allele Frequency Aggregator	European	Sub	9688	(G)₆=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000
Allele Frequency Aggregator	African	Sub	2898	(G)₆=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	608	(G)₆=1.000	delGG=0.000, delG=0.000, dupG=0.000
Allele Frequency Aggregator	Other	Sub	496	(G)₆=1.000	delGG=0.000, delG=0.000, dupG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(G)₆=1.000	delGG=0.000, delG=0.000, dupG=0.000
Allele Frequency Aggregator	Asian	Sub	112	(G)₆=1.000	delGG=0.000, delG=0.000, dupG=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(G)₆=1.00	delGG=0.00, delG=0.00, dupG=0.00

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 17	NC_000017.11:g.50584623_50584624del
GRCh38.p14 chr 17	NC_000017.11:g.50584624del
GRCh38.p14 chr 17	NC_000017.11:g.50584624dup
GRCh38.p14 chr 17	NC_000017.11:g.50584619_50584624dup
GRCh37.p13 chr 17	NC_000017.10:g.48661984_48661985del
GRCh37.p13 chr 17	NC_000017.10:g.48661985del
GRCh37.p13 chr 17	NC_000017.10:g.48661985dup
GRCh37.p13 chr 17	NC_000017.10:g.48661980_48661985dup
CACNA1G RefSeqGene	NG_032024.1:g.28556_28557del
CACNA1G RefSeqGene	NG_032024.1:g.28557del
CACNA1G RefSeqGene	NG_032024.1:g.28557dup
CACNA1G RefSeqGene	NG_032024.1:g.28552_28557dup

Gene: CACNA1G, calcium voltage-gated channel subunit alpha1 G (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CACNA1G transcript variant 16	NM_001256324.2:c.2302-584… NM_001256324.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 17	NM_001256325.2:c.2302-584… NM_001256325.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 18	NM_001256326.2:c.2302-584… NM_001256326.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 19	NM_001256327.2:c.2302-584… NM_001256327.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 20	NM_001256328.2:c.2302-584… NM_001256328.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 21	NM_001256329.2:c.2302-584… NM_001256329.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 22	NM_001256330.2:c.2302-584… NM_001256330.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 23	NM_001256331.2:c.2302-584… NM_001256331.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 24	NM_001256332.2:c.2302-584… NM_001256332.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 25	NM_001256333.2:c.2302-584… NM_001256333.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 26	NM_001256334.2:c.2302-584… NM_001256334.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 27	NM_001256359.2:c.2302-584… NM_001256359.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 28	NM_001256360.2:c.2302-584… NM_001256360.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 29	NM_001256361.2:c.2302-584… NM_001256361.2:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 1	NM_018896.5:c.2302-5848_2… NM_018896.5:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 14	NM_198376.3:c.2302-5848_2… NM_198376.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 2	NM_198377.3:c.2302-5848_2… NM_198377.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 9	NM_198378.3:c.2302-5848_2… NM_198378.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 7	NM_198379.3:c.2302-5848_2… NM_198379.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 5	NM_198380.3:c.2302-5848_2… NM_198380.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 11	NM_198382.3:c.2302-5848_2… NM_198382.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 6	NM_198383.3:c.2302-5848_2… NM_198383.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 8	NM_198384.3:c.2302-5848_2… NM_198384.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 4	NM_198385.3:c.2302-5848_2… NM_198385.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 10	NM_198386.3:c.2302-5848_2… NM_198386.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 12	NM_198387.3:c.2302-5848_2… NM_198387.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 13	NM_198388.3:c.2302-5848_2… NM_198388.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 3	NM_198396.3:c.2302-5848_2… NM_198396.3:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant 30	NR_046054.2:n.	N/A	Intron Variant
CACNA1G transcript variant 31	NR_046055.2:n.	N/A	Intron Variant
CACNA1G transcript variant 32	NR_046056.2:n.	N/A	Intron Variant
CACNA1G transcript variant 33	NR_046057.2:n.	N/A	Intron Variant
CACNA1G transcript variant 34	NR_046058.2:n.	N/A	Intron Variant
CACNA1G transcript variant X1	XM_006722160.5:c.2302-584… XM_006722160.5:c.2302-5848_2302-5847del	N/A	Intron Variant
CACNA1G transcript variant X2	XM_006722161.5:c.2251-584… XM_006722161.5:c.2251-5848_2251-5847del	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	(G)₆=	delGG	delG	dupG	dup(G)₆
GRCh38.p14 chr 17	NC_000017.11:g.50584619_50584624=	NC_000017.11:g.50584623_50584624del	NC_000017.11:g.50584624del	NC_000017.11:g.50584624dup	NC_000017.11:g.50584619_50584624dup
GRCh37.p13 chr 17	NC_000017.10:g.48661980_48661985=	NC_000017.10:g.48661984_48661985del	NC_000017.10:g.48661985del	NC_000017.10:g.48661985dup	NC_000017.10:g.48661980_48661985dup
CACNA1G RefSeqGene	NG_032024.1:g.28552_28557=	NG_032024.1:g.28556_28557del	NG_032024.1:g.28557del	NG_032024.1:g.28557dup	NG_032024.1:g.28552_28557dup
CACNA1G transcript variant 16	NM_001256324.1:c.2302-5852=	NM_001256324.1:c.2302-5848_2302-5847del	NM_001256324.1:c.2302-5847del	NM_001256324.1:c.2302-5847dup	NM_001256324.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 16	NM_001256324.2:c.2302-5852=	NM_001256324.2:c.2302-5848_2302-5847del	NM_001256324.2:c.2302-5847del	NM_001256324.2:c.2302-5847dup	NM_001256324.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 17	NM_001256325.1:c.2302-5852=	NM_001256325.1:c.2302-5848_2302-5847del	NM_001256325.1:c.2302-5847del	NM_001256325.1:c.2302-5847dup	NM_001256325.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 17	NM_001256325.2:c.2302-5852=	NM_001256325.2:c.2302-5848_2302-5847del	NM_001256325.2:c.2302-5847del	NM_001256325.2:c.2302-5847dup	NM_001256325.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 18	NM_001256326.1:c.2302-5852=	NM_001256326.1:c.2302-5848_2302-5847del	NM_001256326.1:c.2302-5847del	NM_001256326.1:c.2302-5847dup	NM_001256326.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 18	NM_001256326.2:c.2302-5852=	NM_001256326.2:c.2302-5848_2302-5847del	NM_001256326.2:c.2302-5847del	NM_001256326.2:c.2302-5847dup	NM_001256326.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 19	NM_001256327.1:c.2302-5852=	NM_001256327.1:c.2302-5848_2302-5847del	NM_001256327.1:c.2302-5847del	NM_001256327.1:c.2302-5847dup	NM_001256327.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 19	NM_001256327.2:c.2302-5852=	NM_001256327.2:c.2302-5848_2302-5847del	NM_001256327.2:c.2302-5847del	NM_001256327.2:c.2302-5847dup	NM_001256327.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 20	NM_001256328.1:c.2302-5852=	NM_001256328.1:c.2302-5848_2302-5847del	NM_001256328.1:c.2302-5847del	NM_001256328.1:c.2302-5847dup	NM_001256328.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 20	NM_001256328.2:c.2302-5852=	NM_001256328.2:c.2302-5848_2302-5847del	NM_001256328.2:c.2302-5847del	NM_001256328.2:c.2302-5847dup	NM_001256328.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 21	NM_001256329.1:c.2302-5852=	NM_001256329.1:c.2302-5848_2302-5847del	NM_001256329.1:c.2302-5847del	NM_001256329.1:c.2302-5847dup	NM_001256329.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 21	NM_001256329.2:c.2302-5852=	NM_001256329.2:c.2302-5848_2302-5847del	NM_001256329.2:c.2302-5847del	NM_001256329.2:c.2302-5847dup	NM_001256329.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 22	NM_001256330.1:c.2302-5852=	NM_001256330.1:c.2302-5848_2302-5847del	NM_001256330.1:c.2302-5847del	NM_001256330.1:c.2302-5847dup	NM_001256330.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 22	NM_001256330.2:c.2302-5852=	NM_001256330.2:c.2302-5848_2302-5847del	NM_001256330.2:c.2302-5847del	NM_001256330.2:c.2302-5847dup	NM_001256330.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 23	NM_001256331.1:c.2302-5852=	NM_001256331.1:c.2302-5848_2302-5847del	NM_001256331.1:c.2302-5847del	NM_001256331.1:c.2302-5847dup	NM_001256331.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 23	NM_001256331.2:c.2302-5852=	NM_001256331.2:c.2302-5848_2302-5847del	NM_001256331.2:c.2302-5847del	NM_001256331.2:c.2302-5847dup	NM_001256331.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 24	NM_001256332.1:c.2302-5852=	NM_001256332.1:c.2302-5848_2302-5847del	NM_001256332.1:c.2302-5847del	NM_001256332.1:c.2302-5847dup	NM_001256332.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 24	NM_001256332.2:c.2302-5852=	NM_001256332.2:c.2302-5848_2302-5847del	NM_001256332.2:c.2302-5847del	NM_001256332.2:c.2302-5847dup	NM_001256332.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 25	NM_001256333.1:c.2302-5852=	NM_001256333.1:c.2302-5848_2302-5847del	NM_001256333.1:c.2302-5847del	NM_001256333.1:c.2302-5847dup	NM_001256333.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 25	NM_001256333.2:c.2302-5852=	NM_001256333.2:c.2302-5848_2302-5847del	NM_001256333.2:c.2302-5847del	NM_001256333.2:c.2302-5847dup	NM_001256333.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 26	NM_001256334.1:c.2302-5852=	NM_001256334.1:c.2302-5848_2302-5847del	NM_001256334.1:c.2302-5847del	NM_001256334.1:c.2302-5847dup	NM_001256334.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 26	NM_001256334.2:c.2302-5852=	NM_001256334.2:c.2302-5848_2302-5847del	NM_001256334.2:c.2302-5847del	NM_001256334.2:c.2302-5847dup	NM_001256334.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 27	NM_001256359.1:c.2302-5852=	NM_001256359.1:c.2302-5848_2302-5847del	NM_001256359.1:c.2302-5847del	NM_001256359.1:c.2302-5847dup	NM_001256359.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 27	NM_001256359.2:c.2302-5852=	NM_001256359.2:c.2302-5848_2302-5847del	NM_001256359.2:c.2302-5847del	NM_001256359.2:c.2302-5847dup	NM_001256359.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 28	NM_001256360.1:c.2302-5852=	NM_001256360.1:c.2302-5848_2302-5847del	NM_001256360.1:c.2302-5847del	NM_001256360.1:c.2302-5847dup	NM_001256360.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 28	NM_001256360.2:c.2302-5852=	NM_001256360.2:c.2302-5848_2302-5847del	NM_001256360.2:c.2302-5847del	NM_001256360.2:c.2302-5847dup	NM_001256360.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 29	NM_001256361.1:c.2302-5852=	NM_001256361.1:c.2302-5848_2302-5847del	NM_001256361.1:c.2302-5847del	NM_001256361.1:c.2302-5847dup	NM_001256361.1:c.2302-5852_2302-5847dup
CACNA1G transcript variant 29	NM_001256361.2:c.2302-5852=	NM_001256361.2:c.2302-5848_2302-5847del	NM_001256361.2:c.2302-5847del	NM_001256361.2:c.2302-5847dup	NM_001256361.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 1	NM_018896.4:c.2302-5852=	NM_018896.4:c.2302-5848_2302-5847del	NM_018896.4:c.2302-5847del	NM_018896.4:c.2302-5847dup	NM_018896.4:c.2302-5852_2302-5847dup
CACNA1G transcript variant 1	NM_018896.5:c.2302-5852=	NM_018896.5:c.2302-5848_2302-5847del	NM_018896.5:c.2302-5847del	NM_018896.5:c.2302-5847dup	NM_018896.5:c.2302-5852_2302-5847dup
CACNA1G transcript variant 14	NM_198376.2:c.2302-5852=	NM_198376.2:c.2302-5848_2302-5847del	NM_198376.2:c.2302-5847del	NM_198376.2:c.2302-5847dup	NM_198376.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 14	NM_198376.3:c.2302-5852=	NM_198376.3:c.2302-5848_2302-5847del	NM_198376.3:c.2302-5847del	NM_198376.3:c.2302-5847dup	NM_198376.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 2	NM_198377.2:c.2302-5852=	NM_198377.2:c.2302-5848_2302-5847del	NM_198377.2:c.2302-5847del	NM_198377.2:c.2302-5847dup	NM_198377.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 2	NM_198377.3:c.2302-5852=	NM_198377.3:c.2302-5848_2302-5847del	NM_198377.3:c.2302-5847del	NM_198377.3:c.2302-5847dup	NM_198377.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 9	NM_198378.2:c.2302-5852=	NM_198378.2:c.2302-5848_2302-5847del	NM_198378.2:c.2302-5847del	NM_198378.2:c.2302-5847dup	NM_198378.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 9	NM_198378.3:c.2302-5852=	NM_198378.3:c.2302-5848_2302-5847del	NM_198378.3:c.2302-5847del	NM_198378.3:c.2302-5847dup	NM_198378.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 7	NM_198379.2:c.2302-5852=	NM_198379.2:c.2302-5848_2302-5847del	NM_198379.2:c.2302-5847del	NM_198379.2:c.2302-5847dup	NM_198379.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 7	NM_198379.3:c.2302-5852=	NM_198379.3:c.2302-5848_2302-5847del	NM_198379.3:c.2302-5847del	NM_198379.3:c.2302-5847dup	NM_198379.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 5	NM_198380.2:c.2302-5852=	NM_198380.2:c.2302-5848_2302-5847del	NM_198380.2:c.2302-5847del	NM_198380.2:c.2302-5847dup	NM_198380.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 5	NM_198380.3:c.2302-5852=	NM_198380.3:c.2302-5848_2302-5847del	NM_198380.3:c.2302-5847del	NM_198380.3:c.2302-5847dup	NM_198380.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 11	NM_198382.2:c.2302-5852=	NM_198382.2:c.2302-5848_2302-5847del	NM_198382.2:c.2302-5847del	NM_198382.2:c.2302-5847dup	NM_198382.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 11	NM_198382.3:c.2302-5852=	NM_198382.3:c.2302-5848_2302-5847del	NM_198382.3:c.2302-5847del	NM_198382.3:c.2302-5847dup	NM_198382.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 6	NM_198383.2:c.2302-5852=	NM_198383.2:c.2302-5848_2302-5847del	NM_198383.2:c.2302-5847del	NM_198383.2:c.2302-5847dup	NM_198383.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 6	NM_198383.3:c.2302-5852=	NM_198383.3:c.2302-5848_2302-5847del	NM_198383.3:c.2302-5847del	NM_198383.3:c.2302-5847dup	NM_198383.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 8	NM_198384.2:c.2302-5852=	NM_198384.2:c.2302-5848_2302-5847del	NM_198384.2:c.2302-5847del	NM_198384.2:c.2302-5847dup	NM_198384.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 8	NM_198384.3:c.2302-5852=	NM_198384.3:c.2302-5848_2302-5847del	NM_198384.3:c.2302-5847del	NM_198384.3:c.2302-5847dup	NM_198384.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 4	NM_198385.2:c.2302-5852=	NM_198385.2:c.2302-5848_2302-5847del	NM_198385.2:c.2302-5847del	NM_198385.2:c.2302-5847dup	NM_198385.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 4	NM_198385.3:c.2302-5852=	NM_198385.3:c.2302-5848_2302-5847del	NM_198385.3:c.2302-5847del	NM_198385.3:c.2302-5847dup	NM_198385.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 10	NM_198386.2:c.2302-5852=	NM_198386.2:c.2302-5848_2302-5847del	NM_198386.2:c.2302-5847del	NM_198386.2:c.2302-5847dup	NM_198386.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 10	NM_198386.3:c.2302-5852=	NM_198386.3:c.2302-5848_2302-5847del	NM_198386.3:c.2302-5847del	NM_198386.3:c.2302-5847dup	NM_198386.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 12	NM_198387.2:c.2302-5852=	NM_198387.2:c.2302-5848_2302-5847del	NM_198387.2:c.2302-5847del	NM_198387.2:c.2302-5847dup	NM_198387.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 12	NM_198387.3:c.2302-5852=	NM_198387.3:c.2302-5848_2302-5847del	NM_198387.3:c.2302-5847del	NM_198387.3:c.2302-5847dup	NM_198387.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 13	NM_198388.2:c.2302-5852=	NM_198388.2:c.2302-5848_2302-5847del	NM_198388.2:c.2302-5847del	NM_198388.2:c.2302-5847dup	NM_198388.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 13	NM_198388.3:c.2302-5852=	NM_198388.3:c.2302-5848_2302-5847del	NM_198388.3:c.2302-5847del	NM_198388.3:c.2302-5847dup	NM_198388.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant 3	NM_198396.2:c.2302-5852=	NM_198396.2:c.2302-5848_2302-5847del	NM_198396.2:c.2302-5847del	NM_198396.2:c.2302-5847dup	NM_198396.2:c.2302-5852_2302-5847dup
CACNA1G transcript variant 3	NM_198396.3:c.2302-5852=	NM_198396.3:c.2302-5848_2302-5847del	NM_198396.3:c.2302-5847del	NM_198396.3:c.2302-5847dup	NM_198396.3:c.2302-5852_2302-5847dup
CACNA1G transcript variant X1	XM_006722160.5:c.2302-5852=	XM_006722160.5:c.2302-5848_2302-5847del	XM_006722160.5:c.2302-5847del	XM_006722160.5:c.2302-5847dup	XM_006722160.5:c.2302-5852_2302-5847dup
CACNA1G transcript variant X2	XM_006722161.5:c.2251-5852=	XM_006722161.5:c.2251-5848_2251-5847del	XM_006722161.5:c.2251-5847del	XM_006722161.5:c.2251-5847dup	XM_006722161.5:c.2251-5852_2251-5847dup

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#.

5 SubSNP, 6 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss4312573814	Apr 26, 2021 (155)
2	GNOMAD	ss4312573815	Apr 26, 2021 (155)
3	GNOMAD	ss4312573816	Apr 26, 2021 (155)
4	TOPMED	ss5037818657	Apr 26, 2021 (155)
5	TOPMED	ss5037818658	Apr 26, 2021 (155)
6	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508838398 (NC_000017.11:50584618::GGGGGG 1/4414) Row 508838399 (NC_000017.11:50584618:G: 1/4414) Row 508838400 (NC_000017.11:50584618:GG: 2/4414)	-	Apr 26, 2021 (155)
7	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508838398 (NC_000017.11:50584618::GGGGGG 1/4414) Row 508838399 (NC_000017.11:50584618:G: 1/4414) Row 508838400 (NC_000017.11:50584618:GG: 2/4414)	-	Apr 26, 2021 (155)
8	gnomAD - Genomes Submission ignored due to conflicting rows: Row 508838398 (NC_000017.11:50584618::GGGGGG 1/4414) Row 508838399 (NC_000017.11:50584618:G: 1/4414) Row 508838400 (NC_000017.11:50584618:GG: 2/4414)	-	Apr 26, 2021 (155)
9	TopMed Submission ignored due to conflicting rows: Row 253364319 (NC_000017.11:50584618:G: 3/264690) Row 253364320 (NC_000017.11:50584618:GG: 3/264690)	-	Apr 26, 2021 (155)
10	TopMed Submission ignored due to conflicting rows: Row 253364319 (NC_000017.11:50584618:G: 3/264690) Row 253364320 (NC_000017.11:50584618:GG: 3/264690)	-	Apr 26, 2021 (155)
11	ALFA	NC_000017.11 - 50584619	Apr 26, 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
ss4312573816, ss5037818658	NC_000017.11:50584618:GG:	NC_000017.11:50584618:GGGGGG:GGGG	(self)
6113719410	NC_000017.11:50584618:GGGGGG:GGGG	NC_000017.11:50584618:GGGGGG:GGGG	(self)
ss4312573815, ss5037818657	NC_000017.11:50584618:G:	NC_000017.11:50584618:GGGGGG:GGGGG	(self)
6113719410	NC_000017.11:50584618:GGGGGG:GGGGG	NC_000017.11:50584618:GGGGGG:GGGGG	(self)
6113719410	NC_000017.11:50584618:GGGGGG:GGGGG… NC_000017.11:50584618:GGGGGG:GGGGGGG	NC_000017.11:50584618:GGGGGG:GGGGG… NC_000017.11:50584618:GGGGGG:GGGGGGG	(self)
ss4312573814	NC_000017.11:50584618::GGGGGG	NC_000017.11:50584618:GGGGGG:GGGGG… NC_000017.11:50584618:GGGGGG:GGGGGGGGGGGG	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2382399476	NC_000017.10:48661979:G:	NC_000017.11:50584618:GGGGGG:GGGGG
ss3264275632	NC_000017.11:50584618::G	NC_000017.11:50584618:GGGGGG:GGGGG… NC_000017.11:50584618:GGGGGG:GGGGGGG

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

No publications for rs1005241118

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
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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

rs1005241118