Canonical Allele Identifier: CA497744718
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454498_7454499insT , CM000679.2:g.7454498_7454499insT GRCh38
NC_000017.10:g.7357817_7357818insT , CM000679.1:g.7357817_7357818insT GRCh37
NC_000017.9:g.7298541_7298542insT NCBI36
NG_008026.1:g.14412_14413insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1022_1023insT MANE Select ENSP00000304290.2:p.Gln341HisfsTer?
ENST00000306071.6:c.1022_1023insT ENSP00000304290.2:p.Gln341HisfsTer?
ENST00000536404.6:c.806_807insT ENSP00000439209.2:p.Gln269HisfsTer?
ENST00000570557.5:c.685_686insT
ENST00000573209.1:n.1966_1967insT
ENST00000576360.1:c.659_660insT ENSP00000459092.1:p.Gln220HisfsTer?
NM_000747.2:c.1022_1023insT NP_000738.2:p.Gln341HisfsTer?
NM_000747.3:c.1022_1023insT MANE Select NP_000738.2:p.Gln341HisfsTer?