Canonical Allele Identifier: CA287432422
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2415567
ClinVar RCV Id: RCV003104779
dbSNP Id: rs1010069501
gnomAD v2: 17-7359098-T-C
gnomAD v3: 17-7455779-T-C
gnomAD v4: 17-7455779-T-C
MyVariant Identifiers: chr17:g.7359098T>C (hg19) chr17:g.7455779T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455779T>C , CM000679.2:g.7455779T>C GRCh38
NC_000017.10:g.7359098T>C , CM000679.1:g.7359098T>C GRCh37
NC_000017.9:g.7299822T>C NCBI36
NG_008026.1:g.15693T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1218-15T>C MANE Select ENSP00000304290.2:n.1218-15T>C
ENST00000306071.6:c.1218-15T>C ENSP00000304290.2:n.1218-15T>C
ENST00000536404.6:c.1002-15T>C ENSP00000439209.2:n.1002-15T>C
ENST00000570557.5:c.881-15T>C
ENST00000575379.1:c.-190T>C ENSP00000461751.1:n.-190T>C
ENST00000576360.1:c.855-15T>C ENSP00000459092.1:n.855-15T>C
NM_000747.2:c.1218-15T>C NP_000738.2:n.1218-15T>C
NM_000747.3:c.1218-15T>C MANE Select NP_000738.2:n.1218-15T>C
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