Canonical Allele Identifier: CA1974340

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174748589C>A , CM000664.2:g.174748589C>A	GRCh38
NC_000002.11:g.175613317C>A , CM000664.1:g.175613317C>A	GRCh37
NC_000002.10:g.175321563C>A	NCBI36
NG_008172.1:g.20884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.744G>T	ENSP00000490338.2:p.Glu248Asp
ENST00000672640.1:c.744G>T	ENSP00000500507.1:p.Glu248Asp
ENST00000261007.9:c.1308G>T	ENSP00000261007.5:p.Glu436Asp
ENST00000348749.9:c.1233G>T MANE Select	ENSP00000261008.5:p.Glu411Asp
ENST00000409219.5:c.1003-334G>T	ENSP00000386611.1:n.1003-334G>T
ENST00000409542.5:c.987G>T	ENSP00000387026.1:p.Glu329Asp
ENST00000435083.5:c.*877G>T	ENSP00000395805.1:n.*877G>T
NM_000079.3:c.1233G>T	NP_000070.1:p.Glu411Asp
NM_001039523.2:c.1308G>T	NP_001034612.1:p.Glu436Asp
XM_017003256.1:c.1329G>T	XP_016858745.1:p.Glu443Asp
XM_017003257.1:c.1254G>T	XP_016858746.1:p.Glu418Asp
NM_000079.4:c.1233G>T MANE Select	NP_000070.1:p.Glu411Asp
NM_001039523.3:c.1308G>T	NP_001034612.1:p.Glu436Asp