Canonical Allele Identifier: CA8347919
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417428
ClinVar RCV Id: RCV001938361
dbSNP Id: rs375505960
gnomAD v2: 17-7357733-T-C
gnomAD v3: 17-7454414-T-C
gnomAD v4: 17-7454414-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454414T>C , CM000679.2:g.7454414T>C GRCh38
NC_000017.10:g.7357733T>C , CM000679.1:g.7357733T>C GRCh37
NC_000017.9:g.7298457T>C NCBI36
NG_008026.1:g.14328T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.938T>C MANE Select ENSP00000304290.2:p.Met313Thr
ENST00000306071.6:c.938T>C ENSP00000304290.2:p.Met313Thr
ENST00000536404.6:c.722T>C ENSP00000439209.2:p.Met241Thr
ENST00000570557.5:c.601T>C
ENST00000573209.1:n.1882T>C
ENST00000576360.1:c.605-30T>C ENSP00000459092.1:n.605-30T>C
NM_000747.2:c.938T>C NP_000738.2:p.Met313Thr
NM_000747.3:c.938T>C MANE Select NP_000738.2:p.Met313Thr