Canonical Allele Identifier: CA2245821888
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454471T= , CM000679.2:g.7454471T= GRCh38
NC_000017.10:g.7357790T= , CM000679.1:g.7357790T= GRCh37
NC_000017.9:g.7298514T= NCBI36
NG_008026.1:g.14385T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.995T= MANE Select ENSP00000304290.2:p.Leu332=
ENST00000306071.6:c.995T= ENSP00000304290.2:p.Leu332=
ENST00000536404.6:c.779T= ENSP00000439209.2:p.Leu260=
ENST00000570557.5:c.658T=
ENST00000573209.1:n.1939T=
ENST00000576360.1:c.632T= ENSP00000459092.1:p.Leu211=
NM_000747.2:c.995T= NP_000738.2:p.Leu332=
NM_000747.3:c.995T= MANE Select NP_000738.2:p.Leu332=