Canonical Allele Identifier: CA349336413

Gene: CHRNA1

Linked Data

• gnomAD v4: 2-174750046-G-A
• MyVariant Identifiers: chr2:g.175614774G>A (hg19) ; chr2:g.174750046G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750046G>A , CM000664.2:g.174750046G>A	GRCh38
NC_000002.11:g.175614774G>A , CM000664.1:g.175614774G>A	GRCh37
NC_000002.10:g.175323020G>A	NCBI36
NG_008172.1:g.19427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.413C>T	ENSP00000490338.2:p.Thr138Ile
ENST00000672640.1:c.413C>T	ENSP00000500507.1:p.Thr138Ile
ENST00000261007.9:c.977C>T	ENSP00000261007.5:p.Thr326Ile
ENST00000348749.9:c.902C>T MANE Select	ENSP00000261008.5:p.Thr301Ile
ENST00000409219.5:c.902C>T	ENSP00000386611.1:p.Thr301Ile
ENST00000409542.5:c.656C>T	ENSP00000387026.1:p.Thr219Ile
ENST00000435083.5:c.*546C>T	ENSP00000395805.1:n.*546C>T
NM_000079.3:c.902C>T	NP_000070.1:p.Thr301Ile
NM_001039523.2:c.977C>T	NP_001034612.1:p.Thr326Ile
XM_017003256.1:c.998C>T	XP_016858745.1:p.Thr333Ile
XM_017003257.1:c.923C>T	XP_016858746.1:p.Thr308Ile
NM_000079.4:c.902C>T MANE Select	NP_000070.1:p.Thr301Ile
NM_001039523.3:c.977C>T	NP_001034612.1:p.Thr326Ile