Canonical Allele Identifier: CA152393

Gene: CHRNB1

Linked Data

• ClinVar Variation Id: 128754
• ClinVar RCV Id: RCV000116727 ; RCV000329220 ; RCV000989695
• dbSNP Id: rs17856697
• ExAC: 17:7348625 A / G
• gnomAD v2: 17-7348625-A-G
• gnomAD v3: 17-7445306-A-G
• gnomAD v4: 17-7445306-A-G
• MyVariant Identifiers: chr17:g.7348625A>G (hg19) ; chr17:g.7445306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7445306A>G , CM000679.2:g.7445306A>G	GRCh38
NC_000017.10:g.7348625A>G , CM000679.1:g.7348625A>G	GRCh37
NC_000017.9:g.7289349A>G	NCBI36
NG_008026.1:g.5220A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000306071.7:c.95A>G MANE Select	ENSP00000304290.2:p.Glu32Gly
ENST00000306071.6:c.95A>G	ENSP00000304290.2:p.Glu32Gly
ENST00000572857.5:c.95A>G	ENSP00000461402.1:p.Glu32Gly
ENST00000574054.1:n.115A>G
NM_000747.2:c.95A>G	NP_000738.2:p.Glu32Gly
NM_000747.3:c.95A>G MANE Select	NP_000738.2:p.Glu32Gly