Canonical Allele Identifier: CA1974425

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 1388965
• ClinVar RCV Id: RCV001886931
• dbSNP Id: rs550013897
• ExAC: 2:175614757 C / T
• gnomAD v2: 2-175614757-C-T
• gnomAD v3: 2-174750029-C-T
• gnomAD v4: 2-174750029-C-T
• MyVariant Identifiers: chr2:g.175614757C>T (hg19) ; chr2:g.174750029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750029C>T , CM000664.2:g.174750029C>T	GRCh38
NC_000002.11:g.175614757C>T , CM000664.1:g.175614757C>T	GRCh37
NC_000002.10:g.175323003C>T	NCBI36
NG_008172.1:g.19444G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.430G>A	ENSP00000490338.2:p.Ala144Thr
ENST00000672640.1:c.430G>A	ENSP00000500507.1:p.Ala144Thr
ENST00000261007.9:c.994G>A	ENSP00000261007.5:p.Ala332Thr
ENST00000348749.9:c.919G>A MANE Select	ENSP00000261008.5:p.Ala307Thr
ENST00000409219.5:c.919G>A	ENSP00000386611.1:p.Ala307Thr
ENST00000409542.5:c.673G>A	ENSP00000387026.1:p.Ala225Thr
ENST00000435083.5:c.*563G>A	ENSP00000395805.1:n.*563G>A
NM_000079.3:c.919G>A	NP_000070.1:p.Ala307Thr
NM_001039523.2:c.994G>A	NP_001034612.1:p.Ala332Thr
XM_017003256.1:c.1015G>A	XP_016858745.1:p.Ala339Thr
XM_017003257.1:c.940G>A	XP_016858746.1:p.Ala314Thr
NM_000079.4:c.919G>A MANE Select	NP_000070.1:p.Ala307Thr
NM_001039523.3:c.994G>A	NP_001034612.1:p.Ala332Thr