Canonical Allele Identifier: CA397796939

Gene: CHRNB1

Linked Data

• ClinVar Variation Id: 2440034
• ClinVar RCV Id: RCV003144934
• MyVariant Identifiers: chr17:g.7357620G>T (hg19) ; chr17:g.7454301G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454301G>T , CM000679.2:g.7454301G>T	GRCh38
NC_000017.10:g.7357620G>T , CM000679.1:g.7357620G>T	GRCh37
NC_000017.9:g.7298344G>T	NCBI36
NG_008026.1:g.14215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.825G>T MANE Select	ENSP00000304290.2:p.Glu275Asp
ENST00000306071.6:c.825G>T	ENSP00000304290.2:p.Glu275Asp
ENST00000536404.6:c.609G>T	ENSP00000439209.2:p.Glu203Asp
ENST00000570557.5:c.488G>T
ENST00000573209.1:n.1769G>T
ENST00000576360.1:c.605-143G>T	ENSP00000459092.1:n.605-143G>T
NM_000747.2:c.825G>T	NP_000738.2:p.Glu275Asp
NM_000747.3:c.825G>T MANE Select	NP_000738.2:p.Glu275Asp