Canonical Allele Identifier: CA624863677

Gene: CHRNB1

Linked Data

• dbSNP Id: rs143871421
• gnomAD v2: 17-7357848-G-C
• gnomAD v4: 17-7454529-G-C
• MyVariant Identifiers: chr17:g.7357848G>C (hg19) ; chr17:g.7454529G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454529G>C , CM000679.2:g.7454529G>C	GRCh38
NC_000017.10:g.7357848G>C , CM000679.1:g.7357848G>C	GRCh37
NC_000017.9:g.7298572G>C	NCBI36
NG_008026.1:g.14443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+9G>C MANE Select	ENSP00000304290.2:n.1044+9G>C
ENST00000306071.6:c.1044+9G>C	ENSP00000304290.2:n.1044+9G>C
ENST00000536404.6:c.828+9G>C	ENSP00000439209.2:n.828+9G>C
ENST00000570557.5:c.707+9G>C
ENST00000573209.1:n.1988+9G>C
ENST00000576360.1:c.681+9G>C	ENSP00000459092.1:n.681+9G>C
NM_000747.2:c.1044+9G>C	NP_000738.2:n.1044+9G>C
NM_000747.3:c.1044+9G>C MANE Select	NP_000738.2:n.1044+9G>C