Canonical Allele Identifier: CA8348052

Gene: CHRNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7455958T>C , CM000679.2:g.7455958T>C	GRCh38
NC_000017.10:g.7359277T>C , CM000679.1:g.7359277T>C	GRCh37
NC_000017.9:g.7300001T>C	NCBI36
NG_008026.1:g.15872T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000747.3:c.1365+17T>C MANE Select	NP_000738.2:n.1365+17T>C
ENST00000306071.7:c.1365+17T>C MANE Select	ENSP00000304290.2:n.1365+17T>C
NM_000747.2:c.1365+17T>C	NP_000738.2:n.1365+17T>C
ENST00000306071.6:c.1365+17T>C	ENSP00000304290.2:n.1365+17T>C
ENST00000536404.6:c.1149+17T>C	ENSP00000439209.2:n.1149+17T>C
ENST00000575379.1:c.-28+17T>C	ENSP00000461751.1:n.-28+17T>C
ENST00000576360.1:c.1002+17T>C	ENSP00000459092.1:n.1002+17T>C