Canonical Allele Identifier: CA981192716
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1908987339
gnomAD v3: 17-7454169-G-A
gnomAD v4: 17-7454169-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454169G>A , CM000679.2:g.7454169G>A GRCh38
NC_000017.10:g.7357488G>A , CM000679.1:g.7357488G>A GRCh37
NC_000017.9:g.7298212G>A NCBI36
NG_008026.1:g.14083G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.821-128G>A MANE Select ENSP00000304290.2:n.821-128G>A
ENST00000306071.6:c.821-128G>A ENSP00000304290.2:n.821-128G>A
ENST00000536404.6:c.605-128G>A ENSP00000439209.2:n.605-128G>A
ENST00000570557.5:c.484-128G>A
ENST00000573209.1:n.1765-128G>A
ENST00000576360.1:c.605-275G>A ENSP00000459092.1:n.605-275G>A
NM_000747.2:c.821-128G>A NP_000738.2:n.821-128G>A
NM_000747.3:c.821-128G>A MANE Select NP_000738.2:n.821-128G>A
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