Canonical Allele Identifier: CA1974592

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 332448
• ClinVar RCV Id: RCV000380558 ; RCV000543342 ; RCV000678786 ; RCV002521336 ; RCV003144220
• dbSNP Id: rs140268343
• ExAC: 2:175622319 G / A
• gnomAD v2: 2-175622319-G-A
• gnomAD v3: 2-174757591-G-A
• gnomAD v4: 2-174757591-G-A
• MyVariant Identifiers: chr2:g.175622319G>A (hg19) ; chr2:g.174757591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174757591G>A , CM000664.2:g.174757591G>A	GRCh38
NC_000002.11:g.175622319G>A , CM000664.1:g.175622319G>A	GRCh37
NC_000002.10:g.175330565G>A	NCBI36
NG_008172.1:g.11882C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.-171C>T	ENSP00000490338.2:n.-171C>T
ENST00000672640.1:c.-171C>T	ENSP00000500507.1:n.-171C>T
ENST00000261007.9:c.394C>T	ENSP00000261007.5:p.Arg132Cys
ENST00000348749.9:c.319C>T MANE Select	ENSP00000261008.5:p.Arg107Cys
ENST00000409219.5:c.319C>T	ENSP00000386611.1:p.Arg107Cys
ENST00000409323.1:c.319C>T	ENSP00000386684.1:p.Arg107Cys
ENST00000409542.5:c.234+1740C>T	ENSP00000387026.1:n.234+1740C>T
ENST00000435083.5:c.234+1740C>T	ENSP00000395805.1:n.234+1740C>T
NM_000079.3:c.319C>T	NP_000070.1:p.Arg107Cys
NM_001039523.2:c.394C>T	NP_001034612.1:p.Arg132Cys
XM_017003256.1:c.415C>T	XP_016858745.1:p.Arg139Cys
XM_017003257.1:c.340C>T	XP_016858746.1:p.Arg114Cys
NM_000079.4:c.319C>T MANE Select	NP_000070.1:p.Arg107Cys
NM_001039523.3:c.394C>T	NP_001034612.1:p.Arg132Cys