Canonical Allele Identifier: CA397798529
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454470C>A , CM000679.2:g.7454470C>A GRCh38
NC_000017.10:g.7357789C>A , CM000679.1:g.7357789C>A GRCh37
NC_000017.9:g.7298513C>A NCBI36
NG_008026.1:g.14384C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.994C>A MANE Select ENSP00000304290.2:p.Leu332Met
ENST00000306071.6:c.994C>A ENSP00000304290.2:p.Leu332Met
ENST00000536404.6:c.778C>A ENSP00000439209.2:p.Leu260Met
ENST00000570557.5:c.657C>A
ENST00000573209.1:n.1938C>A
ENST00000576360.1:c.631C>A ENSP00000459092.1:p.Leu211Met
NM_000747.2:c.994C>A NP_000738.2:p.Leu332Met
NM_000747.3:c.994C>A MANE Select NP_000738.2:p.Leu332Met