Canonical Allele Identifier: CA497744671

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357752C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454433C>G , CM000679.2:g.7454433C>G	GRCh38
NC_000017.10:g.7357752C>G , CM000679.1:g.7357752C>G	GRCh37
NC_000017.9:g.7298476C>G	NCBI36
NG_008026.1:g.14347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.957C>G MANE Select	ENSP00000304290.2:p.Val319=
ENST00000306071.6:c.957C>G	ENSP00000304290.2:p.Val319=
ENST00000536404.6:c.741C>G	ENSP00000439209.2:p.Val247=
ENST00000570557.5:c.620C>G
ENST00000573209.1:n.1901C>G
ENST00000576360.1:c.605-11C>G	ENSP00000459092.1:n.605-11C>G
NM_000747.2:c.957C>G	NP_000738.2:p.Val319=
NM_000747.3:c.957C>G MANE Select	NP_000738.2:p.Val319=