Canonical Allele Identifier: CA397802592
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7455873-C-G
MyVariant Identifiers: chr17:g.7359192C>G (hg19) chr17:g.7455873C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455873C>G , CM000679.2:g.7455873C>G GRCh38
NC_000017.10:g.7359192C>G , CM000679.1:g.7359192C>G GRCh37
NC_000017.9:g.7299916C>G NCBI36
NG_008026.1:g.15787C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1297C>G MANE Select ENSP00000304290.2:p.Leu433Val
ENST00000306071.6:c.1297C>G ENSP00000304290.2:p.Leu433Val
ENST00000536404.6:c.1081C>G ENSP00000439209.2:p.Leu361Val
ENST00000575379.1:c.-96C>G ENSP00000461751.1:n.-96C>G
ENST00000576360.1:c.934C>G ENSP00000459092.1:p.Leu312Val
NM_000747.2:c.1297C>G NP_000738.2:p.Leu433Val
NM_000747.3:c.1297C>G MANE Select NP_000738.2:p.Leu433Val
Search 100 bp 5'
Search 100 bp 3'