Canonical Allele Identifier: CA349333292

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174748177C>G , CM000664.2:g.174748177C>G	GRCh38
NC_000002.11:g.175612905C>G , CM000664.1:g.175612905C>G	GRCh37
NC_000002.10:g.175321151C>G	NCBI36
NG_008172.1:g.21296G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.1321G>C MANE Select	NP_000070.1:p.Gly441Arg
ENST00000348749.9:c.1321G>C MANE Select	ENSP00000261008.5:p.Gly441Arg
NM_000079.3:c.1321G>C	NP_000070.1:p.Gly441Arg
NM_001039523.2:c.1396G>C	NP_001034612.1:p.Gly466Arg
NM_001039523.3:c.1396G>C	NP_001034612.1:p.Gly466Arg
ENST00000261007.9:c.1396G>C	ENSP00000261007.5:p.Gly466Arg
ENST00000409219.5:c.1081G>C	ENSP00000386611.1:p.Gly361Arg
ENST00000409542.5:c.1075G>C	ENSP00000387026.1:p.Gly359Arg
ENST00000435083.5:c.*965G>C	ENSP00000395805.1:n.*965G>C
ENST00000636168.2:c.832G>C	ENSP00000490338.2:p.Gly278Arg
ENST00000672640.1:c.832G>C	ENSP00000500507.1:p.Gly278Arg
XM_017003256.1:c.1417G>C	XP_016858745.1:p.Gly473Arg
XM_017003257.1:c.1342G>C	XP_016858746.1:p.Gly448Arg