Canonical Allele Identifier: CA1974662

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 332450
• ClinVar RCV Id: RCV000281666 ; RCV000530873 ; RCV001090465
• dbSNP Id: rs147488907
• ExAC: 2:175624069 C / T
• gnomAD v2: 2-175624069-C-T
• gnomAD v3: 2-174759341-C-T
• gnomAD v4: 2-174759341-C-T
• MyVariant Identifiers: chr2:g.175624069C>T (hg19) ; chr2:g.174759341C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174759341C>T , CM000664.2:g.174759341C>T	GRCh38
NC_000002.11:g.175624069C>T , CM000664.1:g.175624069C>T	GRCh37
NC_000002.10:g.175332315C>T	NCBI36
NG_008172.1:g.10132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.-266G>A	ENSP00000490338.2:n.-266G>A
ENST00000672640.1:c.-266G>A	ENSP00000500507.1:n.-266G>A
ENST00000261007.9:c.224G>A	ENSP00000261007.5:p.Arg75His
ENST00000348749.9:c.224G>A MANE Select	ENSP00000261008.5:p.Arg75His
ENST00000409219.5:c.224G>A	ENSP00000386611.1:p.Arg75His
ENST00000409323.1:c.224G>A	ENSP00000386684.1:p.Arg75His
ENST00000409542.5:c.224G>A	ENSP00000387026.1:p.Arg75His
ENST00000435083.5:c.224G>A	ENSP00000395805.1:p.Arg75His
NM_000079.3:c.224G>A	NP_000070.1:p.Arg75His
NM_001039523.2:c.224G>A	NP_001034612.1:p.Arg75His
XM_017003256.1:c.245G>A	XP_016858745.1:p.Arg82His
XM_017003257.1:c.245G>A	XP_016858746.1:p.Arg82His
NM_000079.4:c.224G>A MANE Select	NP_000070.1:p.Arg75His
NM_001039523.3:c.224G>A	NP_001034612.1:p.Arg75His