Canonical Allele Identifier: CA497744699
Gene: CHRNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7357789C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.994C>T MANE Select ENSP00000304290.2:p.Leu332=
ENST00000306071.6:c.994C>T ENSP00000304290.2:p.Leu332=
ENST00000536404.6:c.778C>T ENSP00000439209.2:p.Leu260=
ENST00000570557.5:c.657C>T
ENST00000573209.1:n.1938C>T
ENST00000576360.1:c.631C>T ENSP00000459092.1:p.Leu211=
NM_000747.2:c.994C>T NP_000738.2:p.Leu332=
NM_000747.3:c.994C>T MANE Select NP_000738.2:p.Leu332=