Canonical Allele Identifier: CA128076
Gene: CHRNA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18382
ClinVar RCV Id: RCV000020050
dbSNP Id: rs137852804

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750035C>T , CM000664.2:g.174750035C>T GRCh38
NC_000002.11:g.175614763C>T , CM000664.1:g.175614763C>T GRCh37
NC_000002.10:g.175323009C>T NCBI36
NG_008172.1:g.19438G>A

Transcript Alleles

HGVS Amino-acid change
NM_000079.3:c.913G>A VV NP_000070.1:p.Val305Ile
NM_001039523.2:c.988G>A VV NP_001034612.1:p.Val330Ile
XM_017003256.1:c.1009G>A XP_016858745.1:p.Val337Ile
XM_017003257.1:c.934G>A XP_016858746.1:p.Val312Ile
ENST00000261007.9:c.988G>A ENSP00000261007.5:p.Val330Ile
ENST00000348749.9:c.913G>A ENSP00000261008.5:p.Val305Ile
ENST00000409219.5:c.913G>A ENSP00000386611.1:p.Val305Ile
ENST00000409542.5:c.667G>A ENSP00000387026.1:p.Val223Ile
ENST00000435083.5:c.*557G>A ENSP00000395805.1:p.=