Canonical Allele Identifier: CA397797241

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357643C>T (hg19) ; chr17:g.7454324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454324C>T , CM000679.2:g.7454324C>T	GRCh38
NC_000017.10:g.7357643C>T , CM000679.1:g.7357643C>T	GRCh37
NC_000017.9:g.7298367C>T	NCBI36
NG_008026.1:g.14238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.848C>T MANE Select	ENSP00000304290.2:p.Ala283Val
ENST00000306071.6:c.848C>T	ENSP00000304290.2:p.Ala283Val
ENST00000536404.6:c.632C>T	ENSP00000439209.2:p.Ala211Val
ENST00000570557.5:c.511C>T
ENST00000573209.1:n.1792C>T
ENST00000576360.1:c.605-120C>T	ENSP00000459092.1:n.605-120C>T
NM_000747.2:c.848C>T	NP_000738.2:p.Ala283Val
NM_000747.3:c.848C>T MANE Select	NP_000738.2:p.Ala283Val