Canonical Allele Identifier: CA14122329
Gene: CHRNA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 375666
ClinVar RCV Id: RCV000417128
dbSNP Id: rs578776

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78596058G>A , CM000677.2:g.78596058G>A GRCh38
NC_000015.9:g.78888400G>A , CM000677.1:g.78888400G>A GRCh37
NC_000015.8:g.76675455G>A NCBI36
NG_016143.1:g.30238C>T
NG_023328.1:g.35539G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326828.6:c.*546C>T MANE Select ENSP00000315602.5:p.=
ENST00000326828.5:c.*546C>T ENSP00000315602.5:p.=
ENST00000348639.7:c.1390-2867C>T ENSP00000267951.4:p.=
ENST00000559002.5:n.193+482C>T
ENST00000559658.5:c.*64+482C>T ENSP00000452896.1:p.=
NM_000743.4:c.*546C>T NP_000734.2:p.=
NM_001166694.1:c.1390-2867C>T NP_001160166.1:p.=
NR_046313.1:n.2083+482C>T
XM_006720382.1:c.*546C>T XP_006720445.1:p.=
XM_011521173.1:c.*546C>T XP_011519475.1:p.=
XM_006720382.3:c.*546C>T XP_006720445.1:p.=
NM_000743.5:c.*546C>T MANE Select NP_000734.2:p.=
NM_001166694.2:c.1390-2867C>T NP_001160166.1:p.=
NR_046313.2:n.1784+482C>T