Canonical Allele Identifier: CA16604074
Gene: CHRNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381627
ClinVar RCV Id: RCV000438167
dbSNP Id: rs199470445

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174753659C>T , CM000664.2:g.174753659C>T GRCh38
NC_000002.11:g.175618387C>T , CM000664.1:g.175618387C>T GRCh37
NC_000002.10:g.175326633C>T NCBI36
NG_008172.1:g.15814G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636168.2:c.133G>A ENSP00000490338.2:p.Val45Met
ENST00000672640.1:c.133G>A ENSP00000500507.1:p.Val45Met
ENST00000261007.9:c.697G>A ENSP00000261007.5:p.Val233Met
ENST00000348749.9:c.622G>A MANE Select ENSP00000261008.5:p.Val208Met
ENST00000409219.5:c.622G>A ENSP00000386611.1:p.Val208Met
ENST00000409323.1:c.622G>A ENSP00000386684.1:p.Val208Met
ENST00000409542.5:c.376G>A ENSP00000387026.1:p.Val126Met
ENST00000435083.5:c.*266G>A ENSP00000395805.1:n.*266G>A
NM_000079.3:c.622G>A NP_000070.1:p.Val208Met
NM_001039523.2:c.697G>A NP_001034612.1:p.Val233Met
XM_017003256.1:c.718G>A XP_016858745.1:p.Val240Met
XM_017003257.1:c.643G>A XP_016858746.1:p.Val215Met
NM_000079.4:c.622G>A MANE Select NP_000070.1:p.Val208Met
NM_001039523.3:c.697G>A NP_001034612.1:p.Val233Met