Canonical Allele Identifier: CA397798774

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357810A>C (hg19) ; chr17:g.7454491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454491A>C , CM000679.2:g.7454491A>C	GRCh38
NC_000017.10:g.7357810A>C , CM000679.1:g.7357810A>C	GRCh37
NC_000017.9:g.7298534A>C	NCBI36
NG_008026.1:g.14405A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1015A>C MANE Select	ENSP00000304290.2:p.Thr339Pro
ENST00000306071.6:c.1015A>C	ENSP00000304290.2:p.Thr339Pro
ENST00000536404.6:c.799A>C	ENSP00000439209.2:p.Thr267Pro
ENST00000570557.5:c.678A>C
ENST00000573209.1:n.1959A>C
ENST00000576360.1:c.652A>C	ENSP00000459092.1:p.Thr218Pro
NM_000747.2:c.1015A>C	NP_000738.2:p.Thr339Pro
NM_000747.3:c.1015A>C MANE Select	NP_000738.2:p.Thr339Pro