Canonical Allele Identifier: CA1974591

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 534525
• ClinVar RCV Id: RCV000642108 ; RCV003144421
• dbSNP Id: rs376844505
• ExAC: 2:175622318 C / T
• gnomAD v2: 2-175622318-C-T
• gnomAD v3: 2-174757590-C-T
• gnomAD v4: 2-174757590-C-T
• MyVariant Identifiers: chr2:g.175622318C>T (hg19) ; chr2:g.174757590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174757590C>T , CM000664.2:g.174757590C>T	GRCh38
NC_000002.11:g.175622318C>T , CM000664.1:g.175622318C>T	GRCh37
NC_000002.10:g.175330564C>T	NCBI36
NG_008172.1:g.11883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.-170G>A	ENSP00000490338.2:n.-170G>A
ENST00000672640.1:c.-170G>A	ENSP00000500507.1:n.-170G>A
ENST00000261007.9:c.395G>A	ENSP00000261007.5:p.Arg132His
ENST00000348749.9:c.320G>A MANE Select	ENSP00000261008.5:p.Arg107His
ENST00000409219.5:c.320G>A	ENSP00000386611.1:p.Arg107His
ENST00000409323.1:c.320G>A	ENSP00000386684.1:p.Arg107His
ENST00000409542.5:c.234+1741G>A	ENSP00000387026.1:n.234+1741G>A
ENST00000435083.5:c.234+1741G>A	ENSP00000395805.1:n.234+1741G>A
NM_000079.3:c.320G>A	NP_000070.1:p.Arg107His
NM_001039523.2:c.395G>A	NP_001034612.1:p.Arg132His
XM_017003256.1:c.416G>A	XP_016858745.1:p.Arg139His
XM_017003257.1:c.341G>A	XP_016858746.1:p.Arg114His
NM_000079.4:c.320G>A MANE Select	NP_000070.1:p.Arg107His
NM_001039523.3:c.395G>A	NP_001034612.1:p.Arg132His