Canonical Allele Identifier: CA397797225

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357642G>A (hg19) ; chr17:g.7454323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454323G>A , CM000679.2:g.7454323G>A	GRCh38
NC_000017.10:g.7357642G>A , CM000679.1:g.7357642G>A	GRCh37
NC_000017.9:g.7298366G>A	NCBI36
NG_008026.1:g.14237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.847G>A MANE Select	ENSP00000304290.2:p.Ala283Thr
ENST00000306071.6:c.847G>A	ENSP00000304290.2:p.Ala283Thr
ENST00000536404.6:c.631G>A	ENSP00000439209.2:p.Ala211Thr
ENST00000570557.5:c.510G>A
ENST00000573209.1:n.1791G>A
ENST00000576360.1:c.605-121G>A	ENSP00000459092.1:n.605-121G>A
NM_000747.2:c.847G>A	NP_000738.2:p.Ala283Thr
NM_000747.3:c.847G>A MANE Select	NP_000738.2:p.Ala283Thr