Canonical Allele Identifier: CA258181
Gene: CHRNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18378
ClinVar RCV Id: RCV000020046
dbSNP Id: rs137852800
MyVariant Identifiers: chr2:g.175614855G>A (hg19) chr2:g.174750127G>A (hg38)
PubMed: PMID:7863154 PMID:9158151
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750127G>A , CM000664.2:g.174750127G>A GRCh38
NC_000002.11:g.175614855G>A , CM000664.1:g.175614855G>A GRCh37
NC_000002.10:g.175323101G>A NCBI36
NG_008172.1:g.19346C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000636168.2:c.332C>T ENSP00000490338.2:p.Thr111Ile
ENST00000672640.1:c.332C>T ENSP00000500507.1:p.Thr111Ile
ENST00000261007.9:c.896C>T ENSP00000261007.5:p.Thr299Ile
ENST00000348749.9:c.821C>T MANE Select ENSP00000261008.5:p.Thr274Ile
ENST00000409219.5:c.821C>T ENSP00000386611.1:p.Thr274Ile
ENST00000409542.5:c.575C>T ENSP00000387026.1:p.Thr192Ile
ENST00000435083.5:c.*465C>T ENSP00000395805.1:n.*465C>T
NM_000079.3:c.821C>T NP_000070.1:p.Thr274Ile
NM_001039523.2:c.896C>T NP_001034612.1:p.Thr299Ile
XM_017003256.1:c.917C>T XP_016858745.1:p.Thr306Ile
XM_017003257.1:c.842C>T XP_016858746.1:p.Thr281Ile
NM_000079.4:c.821C>T MANE Select NP_000070.1:p.Thr274Ile
NM_001039523.3:c.896C>T NP_001034612.1:p.Thr299Ile
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