Canonical Allele Identifier: CA273900412

Gene: CHRNA3

Linked Data

• dbSNP Id: rs79564225
• gnomAD v2: 15-78888416-A-G
• gnomAD v3: 15-78596074-A-G
• gnomAD v4: 15-78596074-A-G
• MyVariant Identifiers: chr15:g.78888416A>G (hg19) ; chr15:g.78596074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78596074A>G , CM000677.2:g.78596074A>G	GRCh38
NC_000015.9:g.78888416A>G , CM000677.1:g.78888416A>G	GRCh37
NC_000015.8:g.76675471A>G	NCBI36
NG_016143.1:g.30222T>C
NG_023328.1:g.35555A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326828.6:c.*530T>C MANE Select	ENSP00000315602.5:n.*530T>C
ENST00000326828.5:c.*530T>C	ENSP00000315602.5:n.*530T>C
ENST00000348639.7:c.1390-2883T>C	ENSP00000267951.4:n.1390-2883T>C
ENST00000559002.5:n.193+466T>C
ENST00000559658.5:c.*64+466T>C	ENSP00000452896.1:n.*64+466T>C
NM_000743.4:c.*530T>C	NP_000734.2:n.*530T>C
NM_001166694.1:c.1390-2883T>C	NP_001160166.1:n.1390-2883T>C
NR_046313.1:n.2083+466T>C
XM_006720382.1:c.*530T>C	XP_006720445.1:n.*530T>C
XM_011521173.1:c.*530T>C	XP_011519475.1:n.*530T>C
XM_006720382.3:c.*530T>C	XP_006720445.1:n.*530T>C
NM_000743.5:c.*530T>C MANE Select	NP_000734.2:n.*530T>C
NM_001166694.2:c.1390-2883T>C	NP_001160166.1:n.1390-2883T>C
NR_046313.2:n.1784+466T>C