Canonical Allele Identifier: CA8348033
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs779839761
ExAC: 17:7359208 C / T
gnomAD v2: 17-7359208-C-T
gnomAD v3: 17-7455889-C-T
gnomAD v4: 17-7455889-C-T
COSMIC: COSM3522191
MyVariant Identifiers: chr17:g.7359208C>T (hg19) chr17:g.7455889C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455889C>T , CM000679.2:g.7455889C>T GRCh38
NC_000017.10:g.7359208C>T , CM000679.1:g.7359208C>T GRCh37
NC_000017.9:g.7299932C>T NCBI36
NG_008026.1:g.15803C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1313C>T MANE Select ENSP00000304290.2:p.Ser438Phe
ENST00000306071.6:c.1313C>T ENSP00000304290.2:p.Ser438Phe
ENST00000536404.6:c.1097C>T ENSP00000439209.2:p.Ser366Phe
ENST00000575379.1:c.-80C>T ENSP00000461751.1:n.-80C>T
ENST00000576360.1:c.950C>T ENSP00000459092.1:p.Ser317Phe
NM_000747.2:c.1313C>T NP_000738.2:p.Ser438Phe
NM_000747.3:c.1313C>T MANE Select NP_000738.2:p.Ser438Phe
Search 100 bp 5'
Search 100 bp 3'