Canonical Allele Identifier: CA619417539

Gene: CHRNA3

Linked Data

• dbSNP Id: rs1423035143
• gnomAD v2: 15-78894167-CCTT-C
• gnomAD v3: 15-78601825-CCTT-C
• gnomAD v4: 15-78601825-CCTT-C
• COSMIC: COSM5547245
• MyVariant Identifiers: chr15:g.78894168_78894170del (hg19) ; chr15:g.78601826_78601828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78601828_78601830del , CM000677.2:g.78601828_78601830del	GRCh38
NC_000015.9:g.78894170_78894172del , CM000677.1:g.78894170_78894172del	GRCh37
NC_000015.8:g.76681225_76681227del	NCBI36
NG_016143.1:g.24468_24470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326828.6:c.814_816del MANE Select	ENSP00000315602.5:p.Lys272del
ENST00000326828.5:c.814_816del	ENSP00000315602.5:p.Lys272del
ENST00000348639.7:c.814_816del	ENSP00000267951.4:p.Lys272del
ENST00000558903.1:n.521_523del
ENST00000559658.5:c.814_816del	ENSP00000452896.1:p.Lys272del
NM_000743.4:c.814_816del	NP_000734.2:p.Lys272del
NM_001166694.1:c.814_816del	NP_001160166.1:p.Lys272del
NR_046313.1:n.1315_1317del
XM_006720382.1:c.613_615del	XP_006720445.1:p.Lys205del
XM_011521173.1:c.733_735del	XP_011519475.1:p.Lys245del
XM_006720382.3:c.613_615del	XP_006720445.1:p.Lys205del
NM_000743.5:c.814_816del MANE Select	NP_000734.2:p.Lys272del
NM_001166694.2:c.814_816del	NP_001160166.1:p.Lys272del
NR_046313.2:n.1016_1018del