Canonical Allele Identifier: CA287430875
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1276570
ClinVar RCV Id: RCV001687762
dbSNP Id: rs11869257
gnomAD v2: 17-7357411-A-G
gnomAD v3: 17-7454092-A-G
gnomAD v4: 17-7454092-A-G
MyVariant Identifiers: chr17:g.7357411A>G (hg19) chr17:g.7454092A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454092A>G , CM000679.2:g.7454092A>G GRCh38
NC_000017.10:g.7357411A>G , CM000679.1:g.7357411A>G GRCh37
NC_000017.9:g.7298135A>G NCBI36
NG_008026.1:g.14006A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.821-205A>G MANE Select ENSP00000304290.2:n.821-205A>G
ENST00000306071.6:c.821-205A>G ENSP00000304290.2:n.821-205A>G
ENST00000536404.6:c.605-205A>G ENSP00000439209.2:n.605-205A>G
ENST00000570557.5:c.484-205A>G
ENST00000573209.1:n.1765-205A>G
ENST00000576360.1:c.605-352A>G ENSP00000459092.1:n.605-352A>G
NM_000747.2:c.821-205A>G NP_000738.2:n.821-205A>G
NM_000747.3:c.821-205A>G MANE Select NP_000738.2:n.821-205A>G
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