Canonical Allele Identifier: CA393578097

Gene: CHRNA5

Linked Data

• COSMIC: COSM3729625
• MyVariant Identifiers: chr15:g.78882787G>A (hg19) ; chr15:g.78590445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590445G>A , CM000677.2:g.78590445G>A	GRCh38
NC_000015.9:g.78882787G>A , CM000677.1:g.78882787G>A	GRCh37
NC_000015.8:g.76669842G>A	NCBI36
NG_023328.1:g.29926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.1054G>A MANE Select	ENSP00000299565.5:p.Val352Ile
ENST00000394802.4:c.522+347G>A
ENST00000559554.5:c.458+596G>A	ENSP00000453519.1:n.458+596G>A
ENST00000559576.1:c.84G>A
NM_000745.3:c.1054G>A	NP_000736.2:p.Val352Ile
NM_001307945.1:c.458+596G>A	NP_001294874.1:n.458+596G>A
XM_005254142.2:c.707+347G>A	XP_005254199.1:n.707+347G>A
NM_001307945.2:c.458+596G>A	NP_001294874.1:n.458+596G>A
NM_000745.4:c.1054G>A MANE Select	NP_000736.2:p.Val352Ile
NM_001395171.1:c.1054G>A	NP_001382100.1:p.Val352Ile
NM_001395172.1:c.591+463G>A	NP_001382101.1:n.591+463G>A
NM_001395173.1:c.713+341G>A	NP_001382102.1:n.713+341G>A
NM_001395174.1:c.707+347G>A	NP_001382103.1:n.707+347G>A
NM_001395175.1:c.455+596G>A	NP_001382104.1:n.455+596G>A