Canonical Allele Identifier: CA397797397

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357664T>G (hg19) ; chr17:g.7454345T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454345T>G , CM000679.2:g.7454345T>G	GRCh38
NC_000017.10:g.7357664T>G , CM000679.1:g.7357664T>G	GRCh37
NC_000017.9:g.7298388T>G	NCBI36
NG_008026.1:g.14259T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.869T>G MANE Select	ENSP00000304290.2:p.Phe290Cys
ENST00000306071.6:c.869T>G	ENSP00000304290.2:p.Phe290Cys
ENST00000536404.6:c.653T>G	ENSP00000439209.2:p.Phe218Cys
ENST00000570557.5:c.532T>G
ENST00000573209.1:n.1813T>G
ENST00000576360.1:c.605-99T>G	ENSP00000459092.1:n.605-99T>G
NM_000747.2:c.869T>G	NP_000738.2:p.Phe290Cys
NM_000747.3:c.869T>G MANE Select	NP_000738.2:p.Phe290Cys