Canonical Allele Identifier: CA497745010
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs1567680120
gnomAD v4: 17-7455884-C-T
MyVariant Identifiers: chr17:g.7359203C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455884C>T , CM000679.2:g.7455884C>T GRCh38
NC_000017.10:g.7359203C>T , CM000679.1:g.7359203C>T GRCh37
NC_000017.9:g.7299927C>T NCBI36
NG_008026.1:g.15798C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000306071.7:c.1308C>T MANE Select ENSP00000304290.2:p.Val436=
ENST00000306071.6:c.1308C>T ENSP00000304290.2:p.Val436=
ENST00000536404.6:c.1092C>T ENSP00000439209.2:p.Val364=
ENST00000575379.1:c.-85C>T ENSP00000461751.1:n.-85C>T
ENST00000576360.1:c.945C>T ENSP00000459092.1:p.Val315=
NM_000747.2:c.1308C>T NP_000738.2:p.Val436=
NM_000747.3:c.1308C>T MANE Select NP_000738.2:p.Val436=