Canonical Allele Identifier: CA497744777
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1382525209
gnomAD v2: 17-7358671-G-C
gnomAD v4: 17-7455352-G-C
MyVariant Identifiers: chr17:g.7358671G>C (hg19) chr17:g.7455352G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455352G>C , CM000679.2:g.7455352G>C GRCh38
NC_000017.10:g.7358671G>C , CM000679.1:g.7358671G>C GRCh37
NC_000017.9:g.7299395G>C NCBI36
NG_008026.1:g.15266G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1113G>C MANE Select ENSP00000304290.2:p.Pro371=
ENST00000306071.6:c.1113G>C ENSP00000304290.2:p.Pro371=
ENST00000536404.6:c.897G>C ENSP00000439209.2:p.Pro299=
ENST00000570557.5:c.776G>C
ENST00000573209.1:n.2057G>C
ENST00000576360.1:c.750G>C ENSP00000459092.1:p.Pro250=
NM_000747.2:c.1113G>C NP_000738.2:p.Pro371=
NM_000747.3:c.1113G>C MANE Select NP_000738.2:p.Pro371=
Search 100 bp 5'
Search 100 bp 3'