Canonical Allele Identifier: CA8348052
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256773
ClinVar RCV Id: RCV000242294
dbSNP Id: rs2302763

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455958T>C , CM000679.2:g.7455958T>C GRCh38
NC_000017.10:g.7359277T>C , CM000679.1:g.7359277T>C GRCh37
NC_000017.9:g.7300001T>C NCBI36
NG_008026.1:g.15872T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1365+17T>C MANE Select ENSP00000304290.2:p.=
ENST00000306071.6:c.1365+17T>C ENSP00000304290.2:p.=
ENST00000536404.6:c.1149+17T>C ENSP00000439209.2:p.=
ENST00000575379.1:c.-28+17T>C ENSP00000461751.1:p.=
ENST00000576360.1:c.1002+17T>C ENSP00000459092.1:p.=
NM_000747.2:c.1365+17T>C NP_000738.2:p.=
NM_000747.3:c.1365+17T>C MANE Select NP_000738.2:p.=