Canonical Allele Identifier: CA397799011
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7454519-A-G
MyVariant Identifiers: chr17:g.7357838A>G (hg19) chr17:g.7454519A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454519A>G , CM000679.2:g.7454519A>G GRCh38
NC_000017.10:g.7357838A>G , CM000679.1:g.7357838A>G GRCh37
NC_000017.9:g.7298562A>G NCBI36
NG_008026.1:g.14433A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1043A>G MANE Select ENSP00000304290.2:p.Gln348Arg
ENST00000306071.6:c.1043A>G ENSP00000304290.2:p.Gln348Arg
ENST00000536404.6:c.827A>G ENSP00000439209.2:p.Gln276Arg
ENST00000570557.5:c.706A>G
ENST00000573209.1:n.1987A>G
ENST00000576360.1:c.680A>G ENSP00000459092.1:p.Gln227Arg
NM_000747.2:c.1043A>G NP_000738.2:p.Gln348Arg
NM_000747.3:c.1043A>G MANE Select NP_000738.2:p.Gln348Arg
Search 100 bp 5'
Search 100 bp 3'