Canonical Allele Identifier: CA619234988

Gene: CHRNA3

Linked Data

• dbSNP Id: rs1187084933
• gnomAD v2: 15-78888334-T-G
• gnomAD v3: 15-78595992-T-G
• gnomAD v4: 15-78595992-T-G
• MyVariant Identifiers: chr15:g.78888334T>G (hg19) ; chr15:g.78595992T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78595992T>G , CM000677.2:g.78595992T>G	GRCh38
NC_000015.9:g.78888334T>G , CM000677.1:g.78888334T>G	GRCh37
NC_000015.8:g.76675389T>G	NCBI36
NG_016143.1:g.30304A>C
NG_023328.1:g.35473T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326828.6:c.*612A>C MANE Select	ENSP00000315602.5:n.*612A>C
ENST00000326828.5:c.*612A>C	ENSP00000315602.5:n.*612A>C
ENST00000348639.7:c.1390-2801A>C	ENSP00000267951.4:n.1390-2801A>C
ENST00000559002.5:n.193+548A>C
ENST00000559658.5:c.*64+548A>C	ENSP00000452896.1:n.*64+548A>C
NM_000743.4:c.*612A>C	NP_000734.2:n.*612A>C
NM_001166694.1:c.1390-2801A>C	NP_001160166.1:n.1390-2801A>C
NR_046313.1:n.2083+548A>C
XM_006720382.1:c.*612A>C	XP_006720445.1:n.*612A>C
XM_011521173.1:c.*612A>C	XP_011519475.1:n.*612A>C
XM_006720382.3:c.*612A>C	XP_006720445.1:n.*612A>C
NM_000743.5:c.*612A>C MANE Select	NP_000734.2:n.*612A>C
NM_001166694.2:c.1390-2801A>C	NP_001160166.1:n.1390-2801A>C
NR_046313.2:n.1784+548A>C