Canonical Allele Identifier: CA393577853

Gene: CHRNA5

Linked Data

• gnomAD v4: 15-78590385-G-C
• MyVariant Identifiers: chr15:g.78882727G>C (hg19) ; chr15:g.78590385G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590385G>C , CM000677.2:g.78590385G>C	GRCh38
NC_000015.9:g.78882727G>C , CM000677.1:g.78882727G>C	GRCh37
NC_000015.8:g.76669782G>C	NCBI36
NG_023328.1:g.29866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.994G>C MANE Select	ENSP00000299565.5:p.Val332Leu
ENST00000394802.4:c.522+287G>C
ENST00000559554.5:c.458+536G>C	ENSP00000453519.1:n.458+536G>C
ENST00000559576.1:c.24G>C
NM_000745.3:c.994G>C	NP_000736.2:p.Val332Leu
NM_001307945.1:c.458+536G>C	NP_001294874.1:n.458+536G>C
XM_005254142.2:c.707+287G>C	XP_005254199.1:n.707+287G>C
NM_001307945.2:c.458+536G>C	NP_001294874.1:n.458+536G>C
NM_000745.4:c.994G>C MANE Select	NP_000736.2:p.Val332Leu
NM_001395171.1:c.994G>C	NP_001382100.1:p.Val332Leu
NM_001395172.1:c.591+403G>C	NP_001382101.1:n.591+403G>C
NM_001395173.1:c.713+281G>C	NP_001382102.1:n.713+281G>C
NM_001395174.1:c.707+287G>C	NP_001382103.1:n.707+287G>C
NM_001395175.1:c.455+536G>C	NP_001382104.1:n.455+536G>C