Canonical Allele Identifier: CA624863649

Gene: CHRNB1

Linked Data

• dbSNP Id: rs1394266084
• gnomAD v2: 17-7357542-A-ATGGTCAC
• gnomAD v3: 17-7454223-A-ATGGTCAC
• gnomAD v4: 17-7454223-A-ATGGTCAC
• MyVariant Identifiers: chr17:g.7357542_7357543insTGGTCAC (hg19) ; chr17:g.7454223_7454224insTGGTCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454226_7454232dup , CM000679.2:g.7454226_7454232dup	GRCh38
NC_000017.10:g.7357545_7357551dup , CM000679.1:g.7357545_7357551dup	GRCh37
NC_000017.9:g.7298269_7298275dup	NCBI36
NG_008026.1:g.14140_14146dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.821-71_821-65dup MANE Select	ENSP00000304290.2:n.821-71_821-65dup
ENST00000306071.6:c.821-71_821-65dup	ENSP00000304290.2:n.821-71_821-65dup
ENST00000536404.6:c.605-71_605-65dup	ENSP00000439209.2:n.605-71_605-65dup
ENST00000570557.5:c.484-71_484-65dup
ENST00000573209.1:n.1765-71_1765-65dup
ENST00000576360.1:c.605-218_605-212dup	ENSP00000459092.1:n.605-218_605-212dup
NM_000747.2:c.821-71_821-65dup	NP_000738.2:n.821-71_821-65dup
NM_000747.3:c.821-71_821-65dup MANE Select	NP_000738.2:n.821-71_821-65dup