Canonical Allele Identifier: CA8347908
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069201
ClinVar RCV Id: RCV001380974 RCV003136054
dbSNP Id: rs780391043
ExAC: 17:7357676 TG / T
gnomAD v2: 17-7357676-TG-T
gnomAD v3: 17-7454357-TG-T
gnomAD v4: 17-7454357-TG-T
MyVariant Identifiers: chr17:g.7357677del (hg19) chr17:g.7454358del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454359del , CM000679.2:g.7454359del GRCh38
NC_000017.10:g.7357678del , CM000679.1:g.7357678del GRCh37
NC_000017.9:g.7298402del NCBI36
NG_008026.1:g.14273del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.883del MANE Select ENSP00000304290.2:p.Ala295LeufsTer?
ENST00000306071.6:c.883del ENSP00000304290.2:p.Ala295LeufsTer?
ENST00000536404.6:c.667del ENSP00000439209.2:p.Ala223LeufsTer?
ENST00000570557.5:c.546del
ENST00000573209.1:n.1827del
ENST00000576360.1:c.605-85del ENSP00000459092.1:n.605-85del
NM_000747.2:c.883del NP_000738.2:p.Ala295LeufsTer?
NM_000747.3:c.883del MANE Select NP_000738.2:p.Ala295LeufsTer?
Search 100 bp 5'
Search 100 bp 3'