Canonical Allele Identifier: CA981192680
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1908983969
gnomAD v3: 17-7454083-G-A
gnomAD v4: 17-7454083-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454083G>A , CM000679.2:g.7454083G>A GRCh38
NC_000017.10:g.7357402G>A , CM000679.1:g.7357402G>A GRCh37
NC_000017.9:g.7298126G>A NCBI36
NG_008026.1:g.13997G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.821-214G>A MANE Select ENSP00000304290.2:n.821-214G>A
ENST00000306071.6:c.821-214G>A ENSP00000304290.2:n.821-214G>A
ENST00000536404.6:c.605-214G>A ENSP00000439209.2:n.605-214G>A
ENST00000570557.5:c.484-214G>A
ENST00000573209.1:n.1765-214G>A
ENST00000576360.1:c.605-361G>A ENSP00000459092.1:n.605-361G>A
NM_000747.2:c.821-214G>A NP_000738.2:n.821-214G>A
NM_000747.3:c.821-214G>A MANE Select NP_000738.2:n.821-214G>A
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