Canonical Allele Identifier: CA8347910
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs748428224
gnomAD v2: 17-7357690-C-T
gnomAD v4: 17-7454371-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454371C>T , CM000679.2:g.7454371C>T GRCh38
NC_000017.10:g.7357690C>T , CM000679.1:g.7357690C>T GRCh37
NC_000017.9:g.7298414C>T NCBI36
NG_008026.1:g.14285C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.895C>T MANE Select ENSP00000304290.2:p.Pro299Ser
ENST00000306071.6:c.895C>T ENSP00000304290.2:p.Pro299Ser
ENST00000536404.6:c.679C>T ENSP00000439209.2:p.Pro227Ser
ENST00000570557.5:c.558C>T
ENST00000573209.1:n.1839C>T
ENST00000576360.1:c.605-73C>T ENSP00000459092.1:n.605-73C>T
NM_000747.2:c.895C>T NP_000738.2:p.Pro299Ser
NM_000747.3:c.895C>T MANE Select NP_000738.2:p.Pro299Ser