Canonical Allele Identifier: CA397802635

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7359204G>T (hg19) ; chr17:g.7455885G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7455885G>T , CM000679.2:g.7455885G>T	GRCh38
NC_000017.10:g.7359204G>T , CM000679.1:g.7359204G>T	GRCh37
NC_000017.9:g.7299928G>T	NCBI36
NG_008026.1:g.15799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1309G>T MANE Select	ENSP00000304290.2:p.Val437Phe
ENST00000306071.6:c.1309G>T	ENSP00000304290.2:p.Val437Phe
ENST00000536404.6:c.1093G>T	ENSP00000439209.2:p.Val365Phe
ENST00000575379.1:c.-84G>T	ENSP00000461751.1:n.-84G>T
ENST00000576360.1:c.946G>T	ENSP00000459092.1:p.Val316Phe
NM_000747.2:c.1309G>T	NP_000738.2:p.Val437Phe
NM_000747.3:c.1309G>T MANE Select	NP_000738.2:p.Val437Phe