Canonical Allele Identifier: CA397798949
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454512G>T , CM000679.2:g.7454512G>T GRCh38
NC_000017.10:g.7357831G>T , CM000679.1:g.7357831G>T GRCh37
NC_000017.9:g.7298555G>T NCBI36
NG_008026.1:g.14426G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1036G>T MANE Select ENSP00000304290.2:p.Val346Phe
ENST00000306071.6:c.1036G>T ENSP00000304290.2:p.Val346Phe
ENST00000536404.6:c.820G>T ENSP00000439209.2:p.Val274Phe
ENST00000570557.5:c.699G>T
ENST00000573209.1:n.1980G>T
ENST00000576360.1:c.673G>T ENSP00000459092.1:p.Val225Phe
NM_000747.2:c.1036G>T NP_000738.2:p.Val346Phe
NM_000747.3:c.1036G>T MANE Select NP_000738.2:p.Val346Phe