Canonical Allele Identifier: CA8347944
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383320
ClinVar RCV Id: RCV000425214 RCV002062603
dbSNP Id: rs151303014
ExAC: 17:7357859 C / T
gnomAD v2: 17-7357859-C-T
gnomAD v3: 17-7454540-C-T
gnomAD v4: 17-7454540-C-T
MyVariant Identifiers: chr17:g.7357859C>T (hg19) chr17:g.7454540C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454540C>T , CM000679.2:g.7454540C>T GRCh38
NC_000017.10:g.7357859C>T , CM000679.1:g.7357859C>T GRCh37
NC_000017.9:g.7298583C>T NCBI36
NG_008026.1:g.14454C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+20C>T MANE Select ENSP00000304290.2:n.1044+20C>T
ENST00000306071.6:c.1044+20C>T ENSP00000304290.2:n.1044+20C>T
ENST00000536404.6:c.828+20C>T ENSP00000439209.2:n.828+20C>T
ENST00000570557.5:c.707+20C>T
ENST00000573209.1:n.1988+20C>T
ENST00000576360.1:c.681+20C>T ENSP00000459092.1:n.681+20C>T
NM_000747.2:c.1044+20C>T NP_000738.2:n.1044+20C>T
NM_000747.3:c.1044+20C>T MANE Select NP_000738.2:n.1044+20C>T
Search 100 bp 5'
Search 100 bp 3'