Canonical Allele Identifier: CA645598264
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454497_7454498insT , CM000679.2:g.7454497_7454498insT GRCh38
NC_000017.10:g.7357816_7357817insT , CM000679.1:g.7357816_7357817insT GRCh37
NC_000017.9:g.7298540_7298541insT NCBI36
NG_008026.1:g.14411_14412insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1021_1022insT MANE Select ENSP00000304290.2:p.Gln341LeufsTer?
ENST00000306071.6:c.1021_1022insT ENSP00000304290.2:p.Gln341LeufsTer?
ENST00000536404.6:c.805_806insT ENSP00000439209.2:p.Gln269LeufsTer?
ENST00000570557.5:c.684_685insT
ENST00000573209.1:n.1965_1966insT
ENST00000576360.1:c.658_659insT ENSP00000459092.1:p.Gln220LeufsTer?
NM_000747.2:c.1021_1022insT NP_000738.2:p.Gln341LeufsTer?
NM_000747.3:c.1021_1022insT MANE Select NP_000738.2:p.Gln341LeufsTer?