Canonical Allele Identifier: CA497745001
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455875-A-G
MyVariant Identifiers: chr17:g.7359194A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455875A>G , CM000679.2:g.7455875A>G GRCh38
NC_000017.10:g.7359194A>G , CM000679.1:g.7359194A>G GRCh37
NC_000017.9:g.7299918A>G NCBI36
NG_008026.1:g.15789A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1299A>G MANE Select ENSP00000304290.2:p.Leu433=
ENST00000306071.6:c.1299A>G ENSP00000304290.2:p.Leu433=
ENST00000536404.6:c.1083A>G ENSP00000439209.2:p.Leu361=
ENST00000575379.1:c.-94A>G ENSP00000461751.1:n.-94A>G
ENST00000576360.1:c.936A>G ENSP00000459092.1:p.Leu312=
NM_000747.2:c.1299A>G NP_000738.2:p.Leu433=
NM_000747.3:c.1299A>G MANE Select NP_000738.2:p.Leu433=
Search 100 bp 5'
Search 100 bp 3'