Canonical Allele Identifier: CA397802029

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7359114T>G (hg19) ; chr17:g.7455795T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7455795T>G , CM000679.2:g.7455795T>G	GRCh38
NC_000017.10:g.7359114T>G , CM000679.1:g.7359114T>G	GRCh37
NC_000017.9:g.7299838T>G	NCBI36
NG_008026.1:g.15709T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000306071.7:c.1219T>G MANE Select	ENSP00000304290.2:p.Phe407Val
ENST00000306071.6:c.1219T>G	ENSP00000304290.2:p.Phe407Val
ENST00000536404.6:c.1003T>G	ENSP00000439209.2:p.Phe335Val
ENST00000570557.5:c.882T>G
ENST00000575379.1:c.-174T>G	ENSP00000461751.1:n.-174T>G
ENST00000576360.1:c.856T>G	ENSP00000459092.1:p.Phe286Val
NM_000747.2:c.1219T>G	NP_000738.2:p.Phe407Val
NM_000747.3:c.1219T>G MANE Select	NP_000738.2:p.Phe407Val