Canonical Allele Identifier: CA349341413

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 431713
• ClinVar RCV Id: RCV000655947
• dbSNP Id: rs1424077317
• MyVariant Identifiers: chr2:g.175619063C>T (hg19) ; chr2:g.174754335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754335C>T , CM000664.2:g.174754335C>T	GRCh38
NC_000002.11:g.175619063C>T , CM000664.1:g.175619063C>T	GRCh37
NC_000002.10:g.175327309C>T	NCBI36
NG_008172.1:g.15138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.-66G>A	ENSP00000490338.2:n.-66G>A
ENST00000672640.1:c.-66G>A	ENSP00000500507.1:n.-66G>A
ENST00000261007.9:c.499G>A	ENSP00000261007.5:p.Ala167Thr
ENST00000348749.9:c.424G>A MANE Select	ENSP00000261008.5:p.Ala142Thr
ENST00000409219.5:c.424G>A	ENSP00000386611.1:p.Ala142Thr
ENST00000409323.1:c.424G>A	ENSP00000386684.1:p.Ala142Thr
ENST00000409542.5:c.235-57G>A	ENSP00000387026.1:n.235-57G>A
ENST00000435083.5:c.*68G>A	ENSP00000395805.1:n.*68G>A
NM_000079.3:c.424G>A	NP_000070.1:p.Ala142Thr
NM_001039523.2:c.499G>A	NP_001034612.1:p.Ala167Thr
XM_017003256.1:c.520G>A	XP_016858745.1:p.Ala174Thr
XM_017003257.1:c.445G>A	XP_016858746.1:p.Ala149Thr
NM_000079.4:c.424G>A MANE Select	NP_000070.1:p.Ala142Thr
NM_001039523.3:c.499G>A	NP_001034612.1:p.Ala167Thr