Canonical Allele Identifier: CA7684542
Gene: CHRNA3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.78617110T>C
GRCh37 chr15:g.78909452T>C
gnomAD v2:
15:78909452 T / C
gnomAD v3:
15:78617110 T / C
gnomAD v4:
chr15-78617110-T-C
Joint Max Group AF 0.80295891 (AMR)
Genomes Max Group AF 0.74117828 (AMR)
Exomes Max Group AF 0.8211965 (AMR)
ClinVar Allele:
1199831
ClinVar RCV:
RCV001579079
RCV002573246
ClinVar Variation:
1209767
dbSNP:
3743075
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78617110T>C , CM000677.2:g.78617110T>C GRCh38
NC_000015.9:g.78909452T>C , CM000677.1:g.78909452T>C GRCh37
NC_000015.8:g.76696507T>C NCBI36
NG_016143.1:g.9186A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.291A>G MANE Select ENSP00000315602.5:p.Lys97=
ENST00000326828.5:c.291A>G ENSP00000315602.5:p.Lys97=
ENST00000348639.7:c.291A>G ENSP00000267951.4:p.Lys97=
ENST00000559658.5:c.291A>G ENSP00000452896.1:p.Lys97=
NM_000743.4:c.291A>G NP_000734.2:p.Lys97=
NM_001166694.1:c.291A>G NP_001160166.1:p.Lys97=
NR_046313.1:n.792A>G
XM_006720382.1:c.90A>G XP_006720445.1:p.Lys30=
XM_011521173.1:c.210A>G XP_011519475.1:p.Lys70=
XM_006720382.3:c.90A>G XP_006720445.1:p.Lys30=
NM_000743.5:c.291A>G MANE Select NP_000734.2:p.Lys97=
NM_001166694.2:c.291A>G NP_001160166.1:p.Lys97=
NR_046313.2:n.493A>G
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