Canonical Allele Identifier: CA7684549
Gene: CHRNA3 HGNC NCBI
COSMIC:
COSM5468711 (not active)
MyVariant.info:
GRCh38 chr15:g.78617138G>A
GRCh37 chr15:g.78909480G>A
gnomAD v2:
15:78909480 G / A
gnomAD v3:
15:78617138 G / A
gnomAD v4:
chr15-78617138-G-A
Joint Max Group AF 0.80170058 (AMR)
Genomes Max Group AF 0.73987679 (AMR)
Exomes Max Group AF 0.82006325 (AMR)
ClinVar Allele:
1199832
ClinVar RCV:
RCV001579080
RCV002573247
ClinVar Variation:
1209768
dbSNP:
3743074
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78617138G>A , CM000677.2:g.78617138G>A GRCh38
NC_000015.9:g.78909480G>A , CM000677.1:g.78909480G>A GRCh37
NC_000015.8:g.76696535G>A NCBI36
NG_016143.1:g.9158C>T

Transcript Alleles

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