Canonical Allele Identifier: CA397798524
Gene: CHRNB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454470C>G , CM000679.2:g.7454470C>G GRCh38
NC_000017.10:g.7357789C>G , CM000679.1:g.7357789C>G GRCh37
NC_000017.9:g.7298513C>G NCBI36
NG_008026.1:g.14384C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.994C>G MANE Select ENSP00000304290.2:p.Leu332Val
ENST00000306071.6:c.994C>G ENSP00000304290.2:p.Leu332Val
ENST00000536404.6:c.778C>G ENSP00000439209.2:p.Leu260Val
ENST00000570557.5:c.657C>G
ENST00000573209.1:n.1938C>G
ENST00000576360.1:c.631C>G ENSP00000459092.1:p.Leu211Val
NM_000747.2:c.994C>G NP_000738.2:p.Leu332Val
NM_000747.3:c.994C>G MANE Select NP_000738.2:p.Leu332Val