Canonical Allele Identifier: CA497744615
Gene: CHRNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7357671G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454352G>A , CM000679.2:g.7454352G>A GRCh38
NC_000017.10:g.7357671G>A , CM000679.1:g.7357671G>A GRCh37
NC_000017.9:g.7298395G>A NCBI36
NG_008026.1:g.14266G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.876G>A MANE Select ENSP00000304290.2:p.Leu292=
ENST00000306071.6:c.876G>A ENSP00000304290.2:p.Leu292=
ENST00000536404.6:c.660G>A ENSP00000439209.2:p.Leu220=
ENST00000570557.5:c.539G>A
ENST00000573209.1:n.1820G>A
ENST00000576360.1:c.605-92G>A ENSP00000459092.1:n.605-92G>A
NM_000747.2:c.876G>A NP_000738.2:p.Leu292=
NM_000747.3:c.876G>A MANE Select NP_000738.2:p.Leu292=