Canonical Allele Identifier: CA497744622

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357677G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454358G>T , CM000679.2:g.7454358G>T	GRCh38
NC_000017.10:g.7357677G>T , CM000679.1:g.7357677G>T	GRCh37
NC_000017.9:g.7298401G>T	NCBI36
NG_008026.1:g.14272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.882G>T MANE Select	ENSP00000304290.2:p.Leu294=
ENST00000306071.6:c.882G>T	ENSP00000304290.2:p.Leu294=
ENST00000536404.6:c.666G>T	ENSP00000439209.2:p.Leu222=
ENST00000570557.5:c.545G>T
ENST00000573209.1:n.1826G>T
ENST00000576360.1:c.605-86G>T	ENSP00000459092.1:n.605-86G>T
NM_000747.2:c.882G>T	NP_000738.2:p.Leu294=
NM_000747.3:c.882G>T MANE Select	NP_000738.2:p.Leu294=