Canonical Allele Identifier: CA497745013
Gene: CHRNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7359206C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455887C>T , CM000679.2:g.7455887C>T GRCh38
NC_000017.10:g.7359206C>T , CM000679.1:g.7359206C>T GRCh37
NC_000017.9:g.7299930C>T NCBI36
NG_008026.1:g.15801C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1311C>T MANE Select ENSP00000304290.2:p.Val437=
ENST00000306071.6:c.1311C>T ENSP00000304290.2:p.Val437=
ENST00000536404.6:c.1095C>T ENSP00000439209.2:p.Val365=
ENST00000575379.1:c.-82C>T ENSP00000461751.1:n.-82C>T
ENST00000576360.1:c.948C>T ENSP00000459092.1:p.Val316=
NM_000747.2:c.1311C>T NP_000738.2:p.Val437=
NM_000747.3:c.1311C>T MANE Select NP_000738.2:p.Val437=