Canonical Allele Identifier: CA273893167

Gene: CHRNA5

Linked Data

• dbSNP Id: rs1042227487
• gnomAD v2: 15-78879145-C-T
• gnomAD v3: 15-78586803-C-T
• gnomAD v4: 15-78586803-C-T
• MyVariant Identifiers: chr15:g.78879145C>T (hg19) ; chr15:g.78586803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78586803C>T , CM000677.2:g.78586803C>T	GRCh38
NC_000015.9:g.78879145C>T , CM000677.1:g.78879145C>T	GRCh37
NC_000015.8:g.76666200C>T	NCBI36
NG_023328.1:g.26284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299565.9:c.303+114C>T MANE Select	ENSP00000299565.5:n.303+114C>T
ENST00000394802.4:c.118+114C>T
ENST00000559554.5:c.303+114C>T	ENSP00000453519.1:n.303+114C>T
NM_000745.3:c.303+114C>T	NP_000736.2:n.303+114C>T
NM_001307945.1:c.303+114C>T	NP_001294874.1:n.303+114C>T
XM_005254142.2:c.303+114C>T	XP_005254199.1:n.303+114C>T
NM_001307945.2:c.303+114C>T	NP_001294874.1:n.303+114C>T
NM_000745.4:c.303+114C>T MANE Select	NP_000736.2:n.303+114C>T
NM_001395171.1:c.303+114C>T	NP_001382100.1:n.303+114C>T
NM_001395172.1:c.303+114C>T	NP_001382101.1:n.303+114C>T
NM_001395173.1:c.303+114C>T	NP_001382102.1:n.303+114C>T
NM_001395174.1:c.303+114C>T	NP_001382103.1:n.303+114C>T
NM_001395175.1:c.300+114C>T	NP_001382104.1:n.300+114C>T