Canonical Allele Identifier: CA497744619

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357674G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454355G>C , CM000679.2:g.7454355G>C	GRCh38
NC_000017.10:g.7357674G>C , CM000679.1:g.7357674G>C	GRCh37
NC_000017.9:g.7298398G>C	NCBI36
NG_008026.1:g.14269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.879G>C MANE Select	ENSP00000304290.2:p.Leu293=
ENST00000306071.6:c.879G>C	ENSP00000304290.2:p.Leu293=
ENST00000536404.6:c.663G>C	ENSP00000439209.2:p.Leu221=
ENST00000570557.5:c.542G>C
ENST00000573209.1:n.1823G>C
ENST00000576360.1:c.605-89G>C	ENSP00000459092.1:n.605-89G>C
NM_000747.2:c.879G>C	NP_000738.2:p.Leu293=
NM_000747.3:c.879G>C MANE Select	NP_000738.2:p.Leu293=