Canonical Allele Identifier: CA8347941

Gene: CHRNB1

Linked Data

• ClinVar Variation Id: 1576934
• ClinVar RCV Id: RCV002085615
• dbSNP Id: rs536204964
• ExAC: 17:7357850 TCTC / T
• gnomAD v2: 17-7357850-TCTC-T
• gnomAD v3: 17-7454531-TCTC-T
• gnomAD v4: 17-7454531-TCTC-T
• MyVariant Identifiers: chr17:g.7357851_7357853del (hg19) ; chr17:g.7454533_7454535del (hg38) ; chr17:g.7454532_7454534del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454539_7454541del , CM000679.2:g.7454539_7454541del	GRCh38
NC_000017.10:g.7357858_7357860del , CM000679.1:g.7357858_7357860del	GRCh37
NC_000017.9:g.7298582_7298584del	NCBI36
NG_008026.1:g.14453_14455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+19_1044+21del MANE Select	ENSP00000304290.2:n.1044+19_1044+21del
ENST00000306071.6:c.1044+19_1044+21del	ENSP00000304290.2:n.1044+19_1044+21del
ENST00000536404.6:c.828+19_828+21del	ENSP00000439209.2:n.828+19_828+21del
ENST00000570557.5:c.707+19_707+21del
ENST00000573209.1:n.1988+19_1988+21del
ENST00000576360.1:c.681+19_681+21del	ENSP00000459092.1:n.681+19_681+21del
NM_000747.2:c.1044+19_1044+21del	NP_000738.2:n.1044+19_1044+21del
NM_000747.3:c.1044+19_1044+21del MANE Select	NP_000738.2:n.1044+19_1044+21del