Canonical Allele Identifier: CA397798939
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454511G>T , CM000679.2:g.7454511G>T GRCh38
NC_000017.10:g.7357830G>T , CM000679.1:g.7357830G>T GRCh37
NC_000017.9:g.7298554G>T NCBI36
NG_008026.1:g.14425G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1035G>T MANE Select ENSP00000304290.2:p.Trp345Cys
ENST00000306071.6:c.1035G>T ENSP00000304290.2:p.Trp345Cys
ENST00000536404.6:c.819G>T ENSP00000439209.2:p.Trp273Cys
ENST00000570557.5:c.698G>T
ENST00000573209.1:n.1979G>T
ENST00000576360.1:c.672G>T ENSP00000459092.1:p.Trp224Cys
NM_000747.2:c.1035G>T NP_000738.2:p.Trp345Cys
NM_000747.3:c.1035G>T MANE Select NP_000738.2:p.Trp345Cys