Canonical Allele Identifier: CA14086636
Gene: CHRNA3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.78617197G>T
GRCh37 chr15:g.78909539G>T
gnomAD v2:
15:78909539 G / T
gnomAD v3:
15:78617197 G / T
gnomAD v4:
chr15-78617197-G-T
Joint Max Group AF 0.78892255 (AMR)
Genomes Max Group AF 0.73413335 (AMR)
Exomes Max Group AF 0.80845253 (AMR)
ClinVar Allele:
1199833
ClinVar RCV:
RCV001579081
ClinVar Variation:
1209769
dbSNP:
3743073
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78617197G>T , CM000677.2:g.78617197G>T GRCh38
NC_000015.9:g.78909539G>T , CM000677.1:g.78909539G>T GRCh37
NC_000015.8:g.76696594G>T NCBI36
NG_016143.1:g.9099C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.268-64C>A MANE Select ENSP00000315602.5:n.268-64C>A
ENST00000326828.5:c.268-64C>A ENSP00000315602.5:n.268-64C>A
ENST00000348639.7:c.268-64C>A ENSP00000267951.4:n.268-64C>A
ENST00000559658.5:c.268-64C>A ENSP00000452896.1:n.268-64C>A
NM_000743.4:c.268-64C>A NP_000734.2:n.268-64C>A
NM_001166694.1:c.268-64C>A NP_001160166.1:n.268-64C>A
NR_046313.1:n.769-64C>A
XM_006720382.1:c.67-64C>A XP_006720445.1:n.67-64C>A
XM_011521173.1:c.187-64C>A XP_011519475.1:n.187-64C>A
XM_006720382.3:c.67-64C>A XP_006720445.1:n.67-64C>A
NM_000743.5:c.268-64C>A MANE Select NP_000734.2:n.268-64C>A
NM_001166694.2:c.268-64C>A NP_001160166.1:n.268-64C>A
NR_046313.2:n.470-64C>A
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