Canonical Allele Identifier: CA397802597
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455874T>A , CM000679.2:g.7455874T>A GRCh38
NC_000017.10:g.7359193T>A , CM000679.1:g.7359193T>A GRCh37
NC_000017.9:g.7299917T>A NCBI36
NG_008026.1:g.15788T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1298T>A MANE Select ENSP00000304290.2:p.Leu433Gln
ENST00000306071.6:c.1298T>A ENSP00000304290.2:p.Leu433Gln
ENST00000536404.6:c.1082T>A ENSP00000439209.2:p.Leu361Gln
ENST00000575379.1:c.-95T>A ENSP00000461751.1:n.-95T>A
ENST00000576360.1:c.935T>A ENSP00000459092.1:p.Leu312Gln
NM_000747.2:c.1298T>A NP_000738.2:p.Leu433Gln
NM_000747.3:c.1298T>A MANE Select NP_000738.2:p.Leu433Gln