Canonical Allele Identifier: CA397798849
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454499A>C , CM000679.2:g.7454499A>C GRCh38
NC_000017.10:g.7357818A>C , CM000679.1:g.7357818A>C GRCh37
NC_000017.9:g.7298542A>C NCBI36
NG_008026.1:g.14413A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1023A>C MANE Select ENSP00000304290.2:p.Gln341His
ENST00000306071.6:c.1023A>C ENSP00000304290.2:p.Gln341His
ENST00000536404.6:c.807A>C ENSP00000439209.2:p.Gln269His
ENST00000570557.5:c.686A>C
ENST00000573209.1:n.1967A>C
ENST00000576360.1:c.660A>C ENSP00000459092.1:p.Gln220His
NM_000747.2:c.1023A>C NP_000738.2:p.Gln341His
NM_000747.3:c.1023A>C MANE Select NP_000738.2:p.Gln341His