Canonical Allele Identifier: CA397797910
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454405A>T , CM000679.2:g.7454405A>T GRCh38
NC_000017.10:g.7357724A>T , CM000679.1:g.7357724A>T GRCh37
NC_000017.9:g.7298448A>T NCBI36
NG_008026.1:g.14319A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.929A>T MANE Select ENSP00000304290.2:p.Lys310Met
ENST00000306071.6:c.929A>T ENSP00000304290.2:p.Lys310Met
ENST00000536404.6:c.713A>T ENSP00000439209.2:p.Lys238Met
ENST00000570557.5:c.592A>T
ENST00000573209.1:n.1873A>T
ENST00000576360.1:c.605-39A>T ENSP00000459092.1:n.605-39A>T
NM_000747.2:c.929A>T NP_000738.2:p.Lys310Met
NM_000747.3:c.929A>T MANE Select NP_000738.2:p.Lys310Met