Canonical Allele Identifier: CA981192901

Gene: CHRNB1

Linked Data

• dbSNP Id: rs1909007915
• gnomAD v3: 17-7454651-C-CCATCATTA
• gnomAD v4: 17-7454651-C-CCATCATTA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454652_7454659dup , CM000679.2:g.7454652_7454659dup	GRCh38
NC_000017.10:g.7357971_7357978dup , CM000679.1:g.7357971_7357978dup	GRCh37
NC_000017.9:g.7298695_7298702dup	NCBI36
NG_008026.1:g.14566_14573dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+132_1044+139dup MANE Select	ENSP00000304290.2:n.1044+132_1044+139dup
ENST00000306071.6:c.1044+132_1044+139dup	ENSP00000304290.2:n.1044+132_1044+139dup
ENST00000536404.6:c.828+132_828+139dup	ENSP00000439209.2:n.828+132_828+139dup
ENST00000570557.5:c.707+132_707+139dup
ENST00000573209.1:n.1988+132_1988+139dup
ENST00000576360.1:c.681+132_681+139dup	ENSP00000459092.1:n.681+132_681+139dup
NM_000747.2:c.1044+132_1044+139dup	NP_000738.2:n.1044+132_1044+139dup
NM_000747.3:c.1044+132_1044+139dup MANE Select	NP_000738.2:n.1044+132_1044+139dup