Canonical Allele Identifier: CA393586595
Gene: CHRNA3 HGNC NCBI

Linked Data

COSMIC: COSM41005

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78602223A>G , CM000677.2:g.78602223A>G GRCh38
NC_000015.9:g.78894565A>G , CM000677.1:g.78894565A>G GRCh37
NC_000015.8:g.76681620A>G NCBI36
NG_016143.1:g.24073T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326828.6:c.419T>C MANE Select ENSP00000315602.5:p.Leu140Ser
ENST00000326828.5:c.419T>C ENSP00000315602.5:p.Leu140Ser
ENST00000348639.7:c.419T>C ENSP00000267951.4:p.Leu140Ser
ENST00000558903.1:n.126T>C
ENST00000559658.5:c.419T>C ENSP00000452896.1:p.Leu140Ser
NM_000743.4:c.419T>C NP_000734.2:p.Leu140Ser
NM_001166694.1:c.419T>C NP_001160166.1:p.Leu140Ser
NR_046313.1:n.920T>C
XM_006720382.1:c.218T>C XP_006720445.1:p.Leu73Ser
XM_011521173.1:c.338T>C XP_011519475.1:p.Leu113Ser
XM_006720382.3:c.218T>C XP_006720445.1:p.Leu73Ser
NM_000743.5:c.419T>C MANE Select NP_000734.2:p.Leu140Ser
NM_001166694.2:c.419T>C NP_001160166.1:p.Leu140Ser
NR_046313.2:n.621T>C