Canonical Allele Identifier: CA8347936
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 938026
ClinVar RCV Id: RCV001207171 RCV003490121 RCV004033691
dbSNP Id: rs760292772
ExAC: 17:7357822 C / A
gnomAD v2: 17-7357822-C-A
gnomAD v3: 17-7454503-C-A
gnomAD v4: 17-7454503-C-A
MyVariant Identifiers: chr17:g.7357822C>A (hg19) chr17:g.7454503C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454503C>A , CM000679.2:g.7454503C>A GRCh38
NC_000017.10:g.7357822C>A , CM000679.1:g.7357822C>A GRCh37
NC_000017.9:g.7298546C>A NCBI36
NG_008026.1:g.14417C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1027C>A MANE Select ENSP00000304290.2:p.Pro343Thr
ENST00000306071.6:c.1027C>A ENSP00000304290.2:p.Pro343Thr
ENST00000536404.6:c.811C>A ENSP00000439209.2:p.Pro271Thr
ENST00000570557.5:c.690C>A
ENST00000573209.1:n.1971C>A
ENST00000576360.1:c.664C>A ENSP00000459092.1:p.Pro222Thr
NM_000747.2:c.1027C>A NP_000738.2:p.Pro343Thr
NM_000747.3:c.1027C>A MANE Select NP_000738.2:p.Pro343Thr
Search 100 bp 5'
Search 100 bp 3'