Canonical Allele Identifier: CA397800801

Gene: CHRNB1

Linked Data

• gnomAD v4: 17-7455360-C-G
• MyVariant Identifiers: chr17:g.7358679C>G (hg19) ; chr17:g.7455360C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7455360C>G , CM000679.2:g.7455360C>G	GRCh38
NC_000017.10:g.7358679C>G , CM000679.1:g.7358679C>G	GRCh37
NC_000017.9:g.7299403C>G	NCBI36
NG_008026.1:g.15274C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000306071.7:c.1121C>G MANE Select	ENSP00000304290.2:p.Pro374Arg
ENST00000306071.6:c.1121C>G	ENSP00000304290.2:p.Pro374Arg
ENST00000536404.6:c.905C>G	ENSP00000439209.2:p.Pro302Arg
ENST00000570557.5:c.784C>G
ENST00000573209.1:n.2065C>G
ENST00000576360.1:c.758C>G	ENSP00000459092.1:p.Pro253Arg
NM_000747.2:c.1121C>G	NP_000738.2:p.Pro374Arg
NM_000747.3:c.1121C>G MANE Select	NP_000738.2:p.Pro374Arg