Canonical Allele Identifier: CA397802640

Gene: CHRNB1

Linked Data

• dbSNP Id: rs2069945051
• gnomAD v4: 17-7455886-T-C
• MyVariant Identifiers: chr17:g.7359205T>C (hg19) ; chr17:g.7455886T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7455886T>C , CM000679.2:g.7455886T>C	GRCh38
NC_000017.10:g.7359205T>C , CM000679.1:g.7359205T>C	GRCh37
NC_000017.9:g.7299929T>C	NCBI36
NG_008026.1:g.15800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1310T>C MANE Select	ENSP00000304290.2:p.Val437Ala
ENST00000306071.6:c.1310T>C	ENSP00000304290.2:p.Val437Ala
ENST00000536404.6:c.1094T>C	ENSP00000439209.2:p.Val365Ala
ENST00000575379.1:c.-83T>C	ENSP00000461751.1:n.-83T>C
ENST00000576360.1:c.947T>C	ENSP00000459092.1:p.Val316Ala
NM_000747.2:c.1310T>C	NP_000738.2:p.Val437Ala
NM_000747.3:c.1310T>C MANE Select	NP_000738.2:p.Val437Ala