Canonical Allele Identifier: CA497744626

Gene: CHRNB1

Linked Data

• dbSNP Id: rs1908995462
• gnomAD v3: 17-7454361-T-C
• gnomAD v4: 17-7454361-T-C
• MyVariant Identifiers: chr17:g.7357680T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454361T>C , CM000679.2:g.7454361T>C	GRCh38
NC_000017.10:g.7357680T>C , CM000679.1:g.7357680T>C	GRCh37
NC_000017.9:g.7298404T>C	NCBI36
NG_008026.1:g.14275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.885T>C MANE Select	ENSP00000304290.2:p.Ala295=
ENST00000306071.6:c.885T>C	ENSP00000304290.2:p.Ala295=
ENST00000536404.6:c.669T>C	ENSP00000439209.2:p.Ala223=
ENST00000570557.5:c.548T>C
ENST00000573209.1:n.1829T>C
ENST00000576360.1:c.605-83T>C	ENSP00000459092.1:n.605-83T>C
NM_000747.2:c.885T>C	NP_000738.2:p.Ala295=
NM_000747.3:c.885T>C MANE Select	NP_000738.2:p.Ala295=