Canonical Allele Identifier: CA497744781
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455358-C-T
MyVariant Identifiers: chr17:g.7358677C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455358C>T , CM000679.2:g.7455358C>T GRCh38
NC_000017.10:g.7358677C>T , CM000679.1:g.7358677C>T GRCh37
NC_000017.9:g.7299401C>T NCBI36
NG_008026.1:g.15272C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1119C>T MANE Select ENSP00000304290.2:p.Pro373=
ENST00000306071.6:c.1119C>T ENSP00000304290.2:p.Pro373=
ENST00000536404.6:c.903C>T ENSP00000439209.2:p.Pro301=
ENST00000570557.5:c.782C>T
ENST00000573209.1:n.2063C>T
ENST00000576360.1:c.756C>T ENSP00000459092.1:p.Pro252=
NM_000747.2:c.1119C>T NP_000738.2:p.Pro373=
NM_000747.3:c.1119C>T MANE Select NP_000738.2:p.Pro373=