Canonical Allele Identifier: CA397798153
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1277064802
gnomAD v2: 17-7357748-T-G
gnomAD v4: 17-7454429-T-G
MyVariant Identifiers: chr17:g.7357748T>G (hg19) chr17:g.7454429T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454429T>G , CM000679.2:g.7454429T>G GRCh38
NC_000017.10:g.7357748T>G , CM000679.1:g.7357748T>G GRCh37
NC_000017.9:g.7298472T>G NCBI36
NG_008026.1:g.14343T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.953T>G MANE Select ENSP00000304290.2:p.Leu318Arg
ENST00000306071.6:c.953T>G ENSP00000304290.2:p.Leu318Arg
ENST00000536404.6:c.737T>G ENSP00000439209.2:p.Leu246Arg
ENST00000570557.5:c.616T>G
ENST00000573209.1:n.1897T>G
ENST00000576360.1:c.605-15T>G ENSP00000459092.1:n.605-15T>G
NM_000747.2:c.953T>G NP_000738.2:p.Leu318Arg
NM_000747.3:c.953T>G MANE Select NP_000738.2:p.Leu318Arg
Search 100 bp 5'
Search 100 bp 3'