Canonical Allele Identifier: CA8347935
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 578264
ClinVar RCV Id: RCV000701221
dbSNP Id: rs775070102
ExAC: 17:7357810 A / G
gnomAD v2: 17-7357810-A-G
gnomAD v3: 17-7454491-A-G
gnomAD v4: 17-7454491-A-G
MyVariant Identifiers: chr17:g.7357810A>G (hg19) chr17:g.7454491A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454491A>G , CM000679.2:g.7454491A>G GRCh38
NC_000017.10:g.7357810A>G , CM000679.1:g.7357810A>G GRCh37
NC_000017.9:g.7298534A>G NCBI36
NG_008026.1:g.14405A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1015A>G MANE Select ENSP00000304290.2:p.Thr339Ala
ENST00000306071.6:c.1015A>G ENSP00000304290.2:p.Thr339Ala
ENST00000536404.6:c.799A>G ENSP00000439209.2:p.Thr267Ala
ENST00000570557.5:c.678A>G
ENST00000573209.1:n.1959A>G
ENST00000576360.1:c.652A>G ENSP00000459092.1:p.Thr218Ala
NM_000747.2:c.1015A>G NP_000738.2:p.Thr339Ala
NM_000747.3:c.1015A>G MANE Select NP_000738.2:p.Thr339Ala
Search 100 bp 5'
Search 100 bp 3'