Canonical Allele Identifier: CA8348030
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs764838064
ExAC: 17:7359192 C / T
gnomAD v2: 17-7359192-C-T
gnomAD v4: 17-7455873-C-T
MyVariant Identifiers: chr17:g.7359192C>T (hg19) chr17:g.7455873C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455873C>T , CM000679.2:g.7455873C>T GRCh38
NC_000017.10:g.7359192C>T , CM000679.1:g.7359192C>T GRCh37
NC_000017.9:g.7299916C>T NCBI36
NG_008026.1:g.15787C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1297C>T MANE Select ENSP00000304290.2:p.Leu433=
ENST00000306071.6:c.1297C>T ENSP00000304290.2:p.Leu433=
ENST00000536404.6:c.1081C>T ENSP00000439209.2:p.Leu361=
ENST00000575379.1:c.-96C>T ENSP00000461751.1:n.-96C>T
ENST00000576360.1:c.934C>T ENSP00000459092.1:p.Leu312=
NM_000747.2:c.1297C>T NP_000738.2:p.Leu433=
NM_000747.3:c.1297C>T MANE Select NP_000738.2:p.Leu433=
Search 100 bp 5'
Search 100 bp 3'