Canonical Allele Identifier: CA393585418

Gene: CHRNA3

Linked Data

• dbSNP Id: rs2053209851
• gnomAD v2: 15-78894316-C-T
• gnomAD v3: 15-78601974-C-T
• gnomAD v4: 15-78601974-C-T
• MyVariant Identifiers: chr15:g.78894316C>T (hg19) ; chr15:g.78894316_78894320delinsTAGTT (hg19) ; chr15:g.78601974C>T (hg38) ; chr15:g.78601974_78601978delinsTAGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78601974C>T , CM000677.2:g.78601974C>T	GRCh38
NC_000015.9:g.78894316C>T , CM000677.1:g.78894316C>T	GRCh37
NC_000015.8:g.76681371C>T	NCBI36
NG_016143.1:g.24322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326828.6:c.668G>A MANE Select	ENSP00000315602.5:p.Cys223Tyr
ENST00000326828.5:c.668G>A	ENSP00000315602.5:p.Cys223Tyr
ENST00000348639.7:c.668G>A	ENSP00000267951.4:p.Cys223Tyr
ENST00000558903.1:n.375G>A
ENST00000559658.5:c.668G>A	ENSP00000452896.1:p.Cys223Tyr
NM_000743.4:c.668G>A	NP_000734.2:p.Cys223Tyr
NM_001166694.1:c.668G>A	NP_001160166.1:p.Cys223Tyr
NR_046313.1:n.1169G>A
XM_006720382.1:c.467G>A	XP_006720445.1:p.Cys156Tyr
XM_011521173.1:c.587G>A	XP_011519475.1:p.Cys196Tyr
XM_006720382.3:c.467G>A	XP_006720445.1:p.Cys156Tyr
NM_000743.5:c.668G>A MANE Select	NP_000734.2:p.Cys223Tyr
NM_001166694.2:c.668G>A	NP_001160166.1:p.Cys223Tyr
NR_046313.2:n.870G>A