Canonical Allele Identifier: CA14444553
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1178540
ClinVar RCV Id: RCV001534846
dbSNP Id: rs4796418
gnomAD v2: 17-7358000-C-G
gnomAD v3: 17-7454681-C-G
gnomAD v4: 17-7454681-C-G
MyVariant Identifiers: chr17:g.7358000C>G (hg19) chr17:g.7454681C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454681C>G , CM000679.2:g.7454681C>G GRCh38
NC_000017.10:g.7358000C>G , CM000679.1:g.7358000C>G GRCh37
NC_000017.9:g.7298724C>G NCBI36
NG_008026.1:g.14595C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+161C>G MANE Select ENSP00000304290.2:n.1044+161C>G
ENST00000306071.6:c.1044+161C>G ENSP00000304290.2:n.1044+161C>G
ENST00000536404.6:c.828+161C>G ENSP00000439209.2:n.828+161C>G
ENST00000570557.5:c.707+161C>G
ENST00000573209.1:n.1988+161C>G
ENST00000576360.1:c.681+161C>G ENSP00000459092.1:n.681+161C>G
NM_000747.2:c.1044+161C>G NP_000738.2:n.1044+161C>G
NM_000747.3:c.1044+161C>G MANE Select NP_000738.2:n.1044+161C>G
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