Canonical Allele Identifier: CA397797629
Gene: CHRNB1 HGNC NCBI

Linked Data

gnomAD v4: 17-7454383-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454383C>G , CM000679.2:g.7454383C>G GRCh38
NC_000017.10:g.7357702C>G , CM000679.1:g.7357702C>G GRCh37
NC_000017.9:g.7298426C>G NCBI36
NG_008026.1:g.14297C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.907C>G MANE Select ENSP00000304290.2:p.Leu303Val
ENST00000306071.6:c.907C>G ENSP00000304290.2:p.Leu303Val
ENST00000536404.6:c.691C>G ENSP00000439209.2:p.Leu231Val
ENST00000570557.5:c.570C>G
ENST00000573209.1:n.1851C>G
ENST00000576360.1:c.605-61C>G ENSP00000459092.1:n.605-61C>G
NM_000747.2:c.907C>G NP_000738.2:p.Leu303Val
NM_000747.3:c.907C>G MANE Select NP_000738.2:p.Leu303Val