Canonical Allele Identifier: CA397800690
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1163974287
gnomAD v3: 17-7455347-A-T
gnomAD v4: 17-7455347-A-T
MyVariant Identifiers: chr17:g.7358666A>T (hg19) chr17:g.7455347A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455347A>T , CM000679.2:g.7455347A>T GRCh38
NC_000017.10:g.7358666A>T , CM000679.1:g.7358666A>T GRCh37
NC_000017.9:g.7299390A>T NCBI36
NG_008026.1:g.15261A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1108A>T MANE Select ENSP00000304290.2:p.Met370Leu
ENST00000306071.6:c.1108A>T ENSP00000304290.2:p.Met370Leu
ENST00000536404.6:c.892A>T ENSP00000439209.2:p.Met298Leu
ENST00000570557.5:c.771A>T
ENST00000573209.1:n.2052A>T
ENST00000576360.1:c.745A>T ENSP00000459092.1:p.Met249Leu
NM_000747.2:c.1108A>T NP_000738.2:p.Met370Leu
NM_000747.3:c.1108A>T MANE Select NP_000738.2:p.Met370Leu
Search 100 bp 5'
Search 100 bp 3'