Canonical Allele Identifier: CA258183

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 18379
• ClinVar RCV Id: RCV000020047 ; RCV000556947 ; RCV001564390
• dbSNP Id: rs137852801
• MyVariant Identifiers: chr2:g.175618970C>T (hg19) ; chr2:g.174754242C>T (hg38)
• PubMed: PMID:6287911 ; PMID:7619526 ; PMID:7863154 ; PMID:9158151

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754242C>T , CM000664.2:g.174754242C>T	GRCh38
NC_000002.11:g.175618970C>T , CM000664.1:g.175618970C>T	GRCh37
NC_000002.10:g.175327216C>T	NCBI36
NG_008172.1:g.15231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.28G>A	ENSP00000490338.2:p.Gly10Ser
ENST00000672640.1:c.28G>A	ENSP00000500507.1:p.Gly10Ser
ENST00000261007.9:c.592G>A	ENSP00000261007.5:p.Gly198Ser
ENST00000348749.9:c.517G>A MANE Select	ENSP00000261008.5:p.Gly173Ser
ENST00000409219.5:c.517G>A	ENSP00000386611.1:p.Gly173Ser
ENST00000409323.1:c.517G>A	ENSP00000386684.1:p.Gly173Ser
ENST00000409542.5:c.271G>A	ENSP00000387026.1:p.Gly91Ser
ENST00000435083.5:c.*161G>A	ENSP00000395805.1:n.*161G>A
NM_000079.3:c.517G>A	NP_000070.1:p.Gly173Ser
NM_001039523.2:c.592G>A	NP_001034612.1:p.Gly198Ser
XM_017003256.1:c.613G>A	XP_016858745.1:p.Gly205Ser
XM_017003257.1:c.538G>A	XP_016858746.1:p.Gly180Ser
NM_000079.4:c.517G>A MANE Select	NP_000070.1:p.Gly173Ser
NM_001039523.3:c.592G>A	NP_001034612.1:p.Gly198Ser