Canonical Allele Identifier: CA393578068

Gene: CHRNA5

Linked Data

• COSMIC: COSM4795822
• MyVariant Identifiers: chr15:g.78882778G>A (hg19) ; chr15:g.78590436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590436G>A , CM000677.2:g.78590436G>A	GRCh38
NC_000015.9:g.78882778G>A , CM000677.1:g.78882778G>A	GRCh37
NC_000015.8:g.76669833G>A	NCBI36
NG_023328.1:g.29917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1045G>A MANE Select	ENSP00000299565.5:p.Ala349Thr
ENST00000394802.4:c.522+338G>A
ENST00000559554.5:c.458+587G>A	ENSP00000453519.1:n.458+587G>A
ENST00000559576.1:c.75G>A
NM_000745.3:c.1045G>A	NP_000736.2:p.Ala349Thr
NM_001307945.1:c.458+587G>A	NP_001294874.1:n.458+587G>A
XM_005254142.2:c.707+338G>A	XP_005254199.1:n.707+338G>A
NM_001307945.2:c.458+587G>A	NP_001294874.1:n.458+587G>A
NM_000745.4:c.1045G>A MANE Select	NP_000736.2:p.Ala349Thr
NM_001395171.1:c.1045G>A	NP_001382100.1:p.Ala349Thr
NM_001395172.1:c.591+454G>A	NP_001382101.1:n.591+454G>A
NM_001395173.1:c.713+332G>A	NP_001382102.1:n.713+332G>A
NM_001395174.1:c.707+338G>A	NP_001382103.1:n.707+338G>A
NM_001395175.1:c.455+587G>A	NP_001382104.1:n.455+587G>A