Canonical Allele Identifier: CA8347936

Gene: CHRNB1

Linked Data

• ClinVar Variation Id: 938026
• ClinVar RCV Id: RCV001207171 ; RCV003490121 ; RCV004033691
• dbSNP Id: rs760292772
• ExAC: 17:7357822 C / A
• gnomAD v2: 17-7357822-C-A
• gnomAD v3: 17-7454503-C-A
• gnomAD v4: 17-7454503-C-A
• MyVariant Identifiers: chr17:g.7357822C>A (hg19) ; chr17:g.7454503C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454503C>A , CM000679.2:g.7454503C>A	GRCh38
NC_000017.10:g.7357822C>A , CM000679.1:g.7357822C>A	GRCh37
NC_000017.9:g.7298546C>A	NCBI36
NG_008026.1:g.14417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1027C>A MANE Select	ENSP00000304290.2:p.Pro343Thr
ENST00000306071.6:c.1027C>A	ENSP00000304290.2:p.Pro343Thr
ENST00000536404.6:c.811C>A	ENSP00000439209.2:p.Pro271Thr
ENST00000570557.5:c.690C>A
ENST00000573209.1:n.1971C>A
ENST00000576360.1:c.664C>A	ENSP00000459092.1:p.Pro222Thr
NM_000747.2:c.1027C>A	NP_000738.2:p.Pro343Thr
NM_000747.3:c.1027C>A MANE Select	NP_000738.2:p.Pro343Thr