Canonical Allele Identifier: CA152391
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 128752
dbSNP Id: rs2302765

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7447656T>C , CM000679.2:g.7447656T>C GRCh38
NC_000017.10:g.7350975T>C , CM000679.1:g.7350975T>C GRCh37
NC_000017.9:g.7291699T>C NCBI36
NG_008026.1:g.7570T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.610+6T>C MANE Select ENSP00000304290.2:p.=
ENST00000306071.6:c.610+6T>C ENSP00000304290.2:p.=
ENST00000536404.6:c.394+6T>C ENSP00000439209.2:p.=
ENST00000570557.5:n.483+6T>C
ENST00000573209.1:n.1554+6T>C
ENST00000576360.1:c.394+6T>C ENSP00000459092.1:p.=
NM_000747.2:c.610+6T>C NP_000738.2:p.=
NM_000747.3:c.610+6T>C MANE Select NP_000738.2:p.=