Canonical Allele Identifier: CA8348052
Gene: CHRNB1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7455958T>C
GRCh37 chr17:g.7359277T>C
gnomAD v2:
17:7359277 T / C
gnomAD v3:
17:7455958 T / C
gnomAD v4:
chr17-7455958-T-C
Joint Max Group AF 0.21129759 (SAS)
Genomes Max Group AF 0.20415522 (SAS)
Exomes Max Group AF 0.21115918 (SAS)
ClinVar RCV:
RCV000242294
RCV002057400
ClinVar Variation:
256773
dbSNP:
2302763
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455958T>C , CM000679.2:g.7455958T>C GRCh38
NC_000017.10:g.7359277T>C , CM000679.1:g.7359277T>C GRCh37
NC_000017.9:g.7300001T>C NCBI36
NG_008026.1:g.15872T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1365+17T>C MANE Select ENSP00000304290.2:n.1365+17T>C
ENST00000306071.6:c.1365+17T>C ENSP00000304290.2:n.1365+17T>C
ENST00000536404.6:c.1149+17T>C ENSP00000439209.2:n.1149+17T>C
ENST00000575379.1:c.-28+17T>C ENSP00000461751.1:n.-28+17T>C
ENST00000576360.1:c.1002+17T>C ENSP00000459092.1:n.1002+17T>C
NM_000747.2:c.1365+17T>C NP_000738.2:n.1365+17T>C
NM_000747.3:c.1365+17T>C MANE Select NP_000738.2:n.1365+17T>C
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