Name: rs1443672480
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.

rs1443672480

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:77636539 (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 (1/264690, TOPMED)
A=0.000007 (1/140314, GnomAD)
A=0.00000 (0/14050, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KCNMA1 : Synonymous 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	14050	G=1.00000	A=0.00000	1.0	N/A
European	Sub	9690	G=1.0000	A=0.0000	1.0	N/A
African	Sub	2898	G=1.0000	A=0.0000	1.0	N/A
African Others	Sub	114	G=1.000	A=0.000	1.0	N/A
African American	Sub	2784	G=1.0000	A=0.0000	1.0	N/A
Asian	Sub	112	G=1.000	A=0.000	1.0	N/A
East Asian	Sub	86	G=1.00	A=0.00	1.0	N/A
Other Asian	Sub	26	G=1.00	A=0.00	1.0	N/A
Latin American 1	Sub	146	G=1.000	A=0.000	1.0	N/A
Latin American 2	Sub	610	G=1.000	A=0.000	1.0	N/A
South Asian	Sub	98	G=1.00	A=0.00	1.0	N/A
Other	Sub	496	G=1.000	A=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
TopMed	Global	Study-wide	264690	G=0.999996	A=0.000004
gnomAD - Genomes	Global	Study-wide	140314	G=0.999993	A=0.000007
gnomAD - Genomes	European	Sub	75968	G=1.00000	A=0.00000
gnomAD - Genomes	African	Sub	42070	G=1.00000	A=0.00000
gnomAD - Genomes	American	Sub	13670	G=1.00000	A=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=1.0000	A=0.0000
gnomAD - Genomes	East Asian	Sub	3130	G=0.9997	A=0.0003
gnomAD - Genomes	Other	Sub	2154	G=1.0000	A=0.0000
Allele Frequency Aggregator	Total	Global	14050	G=1.00000	A=0.00000
Allele Frequency Aggregator	European	Sub	9690	G=1.0000	A=0.0000
Allele Frequency Aggregator	African	Sub	2898	G=1.0000	A=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	G=1.000	A=0.000
Allele Frequency Aggregator	Other	Sub	496	G=1.000	A=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	112	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=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 10	NC_000010.11:g.77636539G>A
GRCh37.p13 chr 10	NC_000010.10:g.79396297G>A
KCNMA1 RefSeqGene	NG_012270.1:g.6281C>T

Gene: KCNMA1, potassium calcium-activated channel subfamily M alpha 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNMA1 transcript variant 1	NM_001014797.3:c.378+726C… NM_001014797.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 3	NM_001161352.2:c.378+726C… NM_001161352.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 4	NM_001161353.2:c.378+726C… NM_001161353.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 5	NM_001271518.2:c.378+726C… NM_001271518.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 6	NM_001271519.2:c.378+726C… NM_001271519.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 9	NM_001271522.2:c.379-24C>T	N/A	Intron Variant
KCNMA1 transcript variant 10	NM_001322829.2:c.378+726C… NM_001322829.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 11	NM_001322830.2:c.378+726C… NM_001322830.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 12	NM_001322832.2:c.378+726C… NM_001322832.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 13	NM_001322835.2:c.378+726C… NM_001322835.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 14	NM_001322836.2:c.378+726C… NM_001322836.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 15	NM_001322837.2:c.378+726C… NM_001322837.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 2	NM_002247.4:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant 8	NM_001271521.2:c.*22=	N/A	3 Prime UTR Variant
KCNMA1 transcript variant 7	NM_001271520.2:c.*204=	N/A	3 Prime UTR Variant
KCNMA1 transcript variant 16	NM_001322838.2:c.	N/A	Genic Upstream Transcript Variant
KCNMA1 transcript variant 17	NM_001322839.2:c.522C>T	F [TTC] > F [TTT]	Coding Sequence Variant
Calcium-activated potassium channel subunit alpha-1 isoform short4	NP_001309768.1:p.Phe174=	F (Phe) > F (Phe)	Synonymous Variant
KCNMA1 transcript variant X35	XM_005269776.5:c.378+726C… XM_005269776.5:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X16	XM_005269778.3:c.378+726C… XM_005269778.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X17	XM_005269781.3:c.378+726C… XM_005269781.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X37	XM_005269787.5:c.378+726C… XM_005269787.5:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X24	XM_005269789.3:c.378+726C… XM_005269789.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X25	XM_005269792.3:c.378+726C… XM_005269792.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X29	XM_005269796.3:c.378+726C… XM_005269796.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X27	XM_006717826.3:c.378+726C… XM_006717826.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X4	XM_011539773.3:c.378+726C… XM_011539773.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X6	XM_011539774.3:c.378+726C… XM_011539774.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X7	XM_011539775.3:c.378+726C… XM_011539775.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X8	XM_011539777.3:c.378+726C… XM_011539777.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X9	XM_011539778.3:c.378+726C… XM_011539778.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X15	XM_011539780.3:c.378+726C… XM_011539780.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X20	XM_011539781.4:c.378+726C… XM_011539781.4:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X21	XM_011539782.3:c.378+726C… XM_011539782.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X23	XM_011539783.3:c.378+726C… XM_011539783.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X32	XM_011539784.3:c.378+726C… XM_011539784.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X38	XM_011539785.3:c.378+726C… XM_011539785.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X1	XM_017016207.3:c.378+726C… XM_017016207.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X2	XM_017016208.3:c.378+726C… XM_017016208.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X3	XM_017016209.3:c.378+726C… XM_017016209.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X5	XM_017016210.3:c.378+726C… XM_017016210.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X10	XM_017016211.3:c.378+726C… XM_017016211.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X13	XM_017016213.3:c.378+726C… XM_017016213.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X14	XM_017016214.3:c.378+726C… XM_017016214.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X22	XM_017016217.2:c.378+726C… XM_017016217.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X31	XM_017016219.3:c.378+726C… XM_017016219.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X42	XM_017016222.3:c.378+726C… XM_017016222.3:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X18	XM_024447984.2:c.378+726C… XM_024447984.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X28	XM_024447985.2:c.378+726C… XM_024447985.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X36	XM_024447987.2:c.378+726C… XM_024447987.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X39	XM_024447988.2:c.378+726C… XM_024447988.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X40	XM_024447989.2:c.378+726C… XM_024447989.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X41	XM_024447990.2:c.378+726C… XM_024447990.2:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X11	XM_047425195.1:c.378+726C… XM_047425195.1:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X12	XM_047425196.1:c.378+726C… XM_047425196.1:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X19	XM_047425197.1:c.378+726C… XM_047425197.1:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X26	XM_047425199.1:c.378+726C… XM_047425199.1:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X33	XM_047425201.1:c.378+726C… XM_047425201.1:c.378+726C>T	N/A	Intron Variant
KCNMA1 transcript variant X43	XM_017016223.1:c.	N/A	Genic Upstream Transcript Variant
KCNMA1 transcript variant X29	XM_024447986.2:c.	N/A	Genic Upstream Transcript Variant
KCNMA1 transcript variant X30	XM_047425200.1:c.	N/A	Genic Upstream Transcript Variant
KCNMA1 transcript variant X34	XR_007061964.1:n.	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=	A
GRCh38.p14 chr 10	NC_000010.11:g.77636539=	NC_000010.11:g.77636539G>A
GRCh37.p13 chr 10	NC_000010.10:g.79396297=	NC_000010.10:g.79396297G>A
KCNMA1 RefSeqGene	NG_012270.1:g.6281=	NG_012270.1:g.6281C>T
KCNMA1 transcript variant 7	NM_001271520.2:c.*204=	NM_001271520.2:c.*204C>T
KCNMA1 transcript variant 7	NM_001271520.1:c.*204=	NM_001271520.1:c.*204C>T
KCNMA1 transcript variant 17	NM_001322839.2:c.522=	NM_001322839.2:c.522C>T
KCNMA1 transcript variant 17	NM_001322839.1:c.522=	NM_001322839.1:c.522C>T
KCNMA1 transcript variant 8	NM_001271521.2:c.*22=	NM_001271521.2:c.*22C>T
KCNMA1 transcript variant 8	NM_001271521.1:c.*22=	NM_001271521.1:c.*22C>T
Calcium-activated potassium channel subunit alpha-1 isoform short4	NP_001309768.1:p.Phe174=	NP_001309768.1:p.Phe174=
KCNMA1 transcript variant 1	NM_001014797.2:c.378+726=	NM_001014797.2:c.378+726C>T
KCNMA1 transcript variant 1	NM_001014797.3:c.378+726=	NM_001014797.3:c.378+726C>T
KCNMA1 transcript variant 3	NM_001161352.1:c.378+726=	NM_001161352.1:c.378+726C>T
KCNMA1 transcript variant 3	NM_001161352.2:c.378+726=	NM_001161352.2:c.378+726C>T
KCNMA1 transcript variant 4	NM_001161353.1:c.378+726=	NM_001161353.1:c.378+726C>T
KCNMA1 transcript variant 4	NM_001161353.2:c.378+726=	NM_001161353.2:c.378+726C>T
KCNMA1 transcript variant 5	NM_001271518.1:c.378+726=	NM_001271518.1:c.378+726C>T
KCNMA1 transcript variant 5	NM_001271518.2:c.378+726=	NM_001271518.2:c.378+726C>T
KCNMA1 transcript variant 6	NM_001271519.1:c.378+726=	NM_001271519.1:c.378+726C>T
KCNMA1 transcript variant 6	NM_001271519.2:c.378+726=	NM_001271519.2:c.378+726C>T
KCNMA1 transcript variant 9	NM_001271522.1:c.379-24=	NM_001271522.1:c.379-24C>T
KCNMA1 transcript variant 9	NM_001271522.2:c.379-24=	NM_001271522.2:c.379-24C>T
KCNMA1 transcript variant 10	NM_001322829.2:c.378+726=	NM_001322829.2:c.378+726C>T
KCNMA1 transcript variant 11	NM_001322830.2:c.378+726=	NM_001322830.2:c.378+726C>T
KCNMA1 transcript variant 12	NM_001322832.2:c.378+726=	NM_001322832.2:c.378+726C>T
KCNMA1 transcript variant 13	NM_001322835.2:c.378+726=	NM_001322835.2:c.378+726C>T
KCNMA1 transcript variant 14	NM_001322836.2:c.378+726=	NM_001322836.2:c.378+726C>T
KCNMA1 transcript variant 15	NM_001322837.2:c.378+726=	NM_001322837.2:c.378+726C>T
KCNMA1 transcript variant 2	NM_002247.3:c.378+726=	NM_002247.3:c.378+726C>T
KCNMA1 transcript variant 2	NM_002247.4:c.378+726=	NM_002247.4:c.378+726C>T
KCNMA1 transcript variant X1	XM_005269773.1:c.378+726=	XM_005269773.1:c.378+726C>T
KCNMA1 transcript variant X2	XM_005269774.1:c.378+726=	XM_005269774.1:c.378+726C>T
KCNMA1 transcript variant X3	XM_005269775.1:c.378+726=	XM_005269775.1:c.378+726C>T
KCNMA1 transcript variant X4	XM_005269776.1:c.378+726=	XM_005269776.1:c.378+726C>T
KCNMA1 transcript variant X35	XM_005269776.5:c.378+726=	XM_005269776.5:c.378+726C>T
KCNMA1 transcript variant X5	XM_005269777.1:c.378+726=	XM_005269777.1:c.378+726C>T
KCNMA1 transcript variant X17	XM_005269778.1:c.378+726=	XM_005269778.1:c.378+726C>T
KCNMA1 transcript variant X16	XM_005269778.3:c.378+726=	XM_005269778.3:c.378+726C>T
KCNMA1 transcript variant X7	XM_005269779.1:c.378+726=	XM_005269779.1:c.378+726C>T
KCNMA1 transcript variant X8	XM_005269780.1:c.378+726=	XM_005269780.1:c.378+726C>T
KCNMA1 transcript variant X10	XM_005269781.1:c.378+726=	XM_005269781.1:c.378+726C>T
KCNMA1 transcript variant X17	XM_005269781.3:c.378+726=	XM_005269781.3:c.378+726C>T
KCNMA1 transcript variant X10	XM_005269782.1:c.378+726=	XM_005269782.1:c.378+726C>T
KCNMA1 transcript variant X11	XM_005269783.1:c.378+726=	XM_005269783.1:c.378+726C>T
KCNMA1 transcript variant X12	XM_005269784.1:c.378+726=	XM_005269784.1:c.378+726C>T
KCNMA1 transcript variant X13	XM_005269785.1:c.378+726=	XM_005269785.1:c.378+726C>T
KCNMA1 transcript variant X14	XM_005269786.1:c.378+726=	XM_005269786.1:c.378+726C>T
KCNMA1 transcript variant X15	XM_005269787.1:c.378+726=	XM_005269787.1:c.378+726C>T
KCNMA1 transcript variant X37	XM_005269787.5:c.378+726=	XM_005269787.5:c.378+726C>T
KCNMA1 transcript variant X16	XM_005269788.1:c.378+726=	XM_005269788.1:c.378+726C>T
KCNMA1 transcript variant X14	XM_005269789.1:c.378+726=	XM_005269789.1:c.378+726C>T
KCNMA1 transcript variant X24	XM_005269789.3:c.378+726=	XM_005269789.3:c.378+726C>T
KCNMA1 transcript variant X18	XM_005269790.1:c.378+726=	XM_005269790.1:c.378+726C>T
KCNMA1 transcript variant X19	XM_005269791.1:c.378+726=	XM_005269791.1:c.378+726C>T
KCNMA1 transcript variant X15	XM_005269792.1:c.378+726=	XM_005269792.1:c.378+726C>T
KCNMA1 transcript variant X25	XM_005269792.3:c.378+726=	XM_005269792.3:c.378+726C>T
KCNMA1 transcript variant X21	XM_005269793.1:c.378+726=	XM_005269793.1:c.378+726C>T
KCNMA1 transcript variant X22	XM_005269794.1:c.378+726=	XM_005269794.1:c.378+726C>T
KCNMA1 transcript variant X23	XM_005269795.1:c.378+726=	XM_005269795.1:c.378+726C>T
KCNMA1 transcript variant X17	XM_005269796.1:c.378+726=	XM_005269796.1:c.378+726C>T
KCNMA1 transcript variant X29	XM_005269796.3:c.378+726=	XM_005269796.3:c.378+726C>T
KCNMA1 transcript variant X18	XM_005269797.1:c.378+726=	XM_005269797.1:c.378+726C>T
KCNMA1 transcript variant X26	XM_005269798.1:c.378+726=	XM_005269798.1:c.378+726C>T
KCNMA1 transcript variant X27	XM_005269799.1:c.378+726=	XM_005269799.1:c.378+726C>T
KCNMA1 transcript variant X28	XM_005269800.1:c.378+726=	XM_005269800.1:c.378+726C>T
KCNMA1 transcript variant X29	XM_005269801.1:c.378+726=	XM_005269801.1:c.378+726C>T
KCNMA1 transcript variant X30	XM_005269802.1:c.378+726=	XM_005269802.1:c.378+726C>T
KCNMA1 transcript variant X31	XM_005269803.1:c.378+726=	XM_005269803.1:c.378+726C>T
KCNMA1 transcript variant X32	XM_005269804.1:c.378+726=	XM_005269804.1:c.378+726C>T
KCNMA1 transcript variant X27	XM_006717826.3:c.378+726=	XM_006717826.3:c.378+726C>T
KCNMA1 transcript variant X4	XM_011539773.3:c.378+726=	XM_011539773.3:c.378+726C>T
KCNMA1 transcript variant X6	XM_011539774.3:c.378+726=	XM_011539774.3:c.378+726C>T
KCNMA1 transcript variant X7	XM_011539775.3:c.378+726=	XM_011539775.3:c.378+726C>T
KCNMA1 transcript variant X8	XM_011539777.3:c.378+726=	XM_011539777.3:c.378+726C>T
KCNMA1 transcript variant X9	XM_011539778.3:c.378+726=	XM_011539778.3:c.378+726C>T
KCNMA1 transcript variant X15	XM_011539780.3:c.378+726=	XM_011539780.3:c.378+726C>T
KCNMA1 transcript variant X20	XM_011539781.4:c.378+726=	XM_011539781.4:c.378+726C>T
KCNMA1 transcript variant X21	XM_011539782.3:c.378+726=	XM_011539782.3:c.378+726C>T
KCNMA1 transcript variant X23	XM_011539783.3:c.378+726=	XM_011539783.3:c.378+726C>T
KCNMA1 transcript variant X32	XM_011539784.3:c.378+726=	XM_011539784.3:c.378+726C>T
KCNMA1 transcript variant X38	XM_011539785.3:c.378+726=	XM_011539785.3:c.378+726C>T
KCNMA1 transcript variant X1	XM_017016207.3:c.378+726=	XM_017016207.3:c.378+726C>T
KCNMA1 transcript variant X2	XM_017016208.3:c.378+726=	XM_017016208.3:c.378+726C>T
KCNMA1 transcript variant X3	XM_017016209.3:c.378+726=	XM_017016209.3:c.378+726C>T
KCNMA1 transcript variant X5	XM_017016210.3:c.378+726=	XM_017016210.3:c.378+726C>T
KCNMA1 transcript variant X10	XM_017016211.3:c.378+726=	XM_017016211.3:c.378+726C>T
KCNMA1 transcript variant X13	XM_017016213.3:c.378+726=	XM_017016213.3:c.378+726C>T
KCNMA1 transcript variant X14	XM_017016214.3:c.378+726=	XM_017016214.3:c.378+726C>T
KCNMA1 transcript variant X22	XM_017016217.2:c.378+726=	XM_017016217.2:c.378+726C>T
KCNMA1 transcript variant X31	XM_017016219.3:c.378+726=	XM_017016219.3:c.378+726C>T
KCNMA1 transcript variant X42	XM_017016222.3:c.378+726=	XM_017016222.3:c.378+726C>T
KCNMA1 transcript variant X18	XM_024447984.2:c.378+726=	XM_024447984.2:c.378+726C>T
KCNMA1 transcript variant X28	XM_024447985.2:c.378+726=	XM_024447985.2:c.378+726C>T
KCNMA1 transcript variant X36	XM_024447987.2:c.378+726=	XM_024447987.2:c.378+726C>T
KCNMA1 transcript variant X39	XM_024447988.2:c.378+726=	XM_024447988.2:c.378+726C>T
KCNMA1 transcript variant X40	XM_024447989.2:c.378+726=	XM_024447989.2:c.378+726C>T
KCNMA1 transcript variant X41	XM_024447990.2:c.378+726=	XM_024447990.2:c.378+726C>T
KCNMA1 transcript variant X11	XM_047425195.1:c.378+726=	XM_047425195.1:c.378+726C>T
KCNMA1 transcript variant X12	XM_047425196.1:c.378+726=	XM_047425196.1:c.378+726C>T
KCNMA1 transcript variant X19	XM_047425197.1:c.378+726=	XM_047425197.1:c.378+726C>T
KCNMA1 transcript variant X26	XM_047425199.1:c.378+726=	XM_047425199.1:c.378+726C>T
KCNMA1 transcript variant X33	XM_047425201.1:c.378+726=	XM_047425201.1:c.378+726C>T

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#.

2 SubSNP, 3 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss4221570239	Apr 27, 2021 (155)
2	TOPMED	ss4858470505	Apr 27, 2021 (155)
3	gnomAD - Genomes	NC_000010.11 - 77636539	Apr 27, 2021 (155)
4	TopMed	NC_000010.11 - 77636539	Apr 27, 2021 (155)
5	ALFA	NC_000010.11 - 77636539	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
357278390, 74016160, 10931140063, ss4221570239, ss4858470505	NC_000010.11:77636538:G:A	NC_000010.11:77636538:G:A	(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 rs1443672480

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1443672480