Canonical Allele Identifier: CA287431309

Gene: CHRNB1

Linked Data

• dbSNP Id: rs77319126
• gnomAD v4: 17-7454544-C-T
• MyVariant Identifiers: chr17:g.7357863C>T (hg19) ; chr17:g.7454544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454544C>T , CM000679.2:g.7454544C>T	GRCh38
NC_000017.10:g.7357863C>T , CM000679.1:g.7357863C>T	GRCh37
NC_000017.9:g.7298587C>T	NCBI36
NG_008026.1:g.14458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+24C>T MANE Select	ENSP00000304290.2:n.1044+24C>T
ENST00000306071.6:c.1044+24C>T	ENSP00000304290.2:n.1044+24C>T
ENST00000536404.6:c.828+24C>T	ENSP00000439209.2:n.828+24C>T
ENST00000570557.5:c.707+24C>T
ENST00000573209.1:n.1988+24C>T
ENST00000576360.1:c.681+24C>T	ENSP00000459092.1:n.681+24C>T
NM_000747.2:c.1044+24C>T	NP_000738.2:n.1044+24C>T
NM_000747.3:c.1044+24C>T MANE Select	NP_000738.2:n.1044+24C>T