Canonical Allele Identifier: CA397797391
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1182223934
gnomAD v4: 17-7454345-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454345T>C , CM000679.2:g.7454345T>C GRCh38
NC_000017.10:g.7357664T>C , CM000679.1:g.7357664T>C GRCh37
NC_000017.9:g.7298388T>C NCBI36
NG_008026.1:g.14259T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.869T>C MANE Select ENSP00000304290.2:p.Phe290Ser
ENST00000306071.6:c.869T>C ENSP00000304290.2:p.Phe290Ser
ENST00000536404.6:c.653T>C ENSP00000439209.2:p.Phe218Ser
ENST00000570557.5:c.532T>C
ENST00000573209.1:n.1813T>C
ENST00000576360.1:c.605-99T>C ENSP00000459092.1:n.605-99T>C
NM_000747.2:c.869T>C NP_000738.2:p.Phe290Ser
NM_000747.3:c.869T>C MANE Select NP_000738.2:p.Phe290Ser