Canonical Allele Identifier: CA497744694
Gene: CHRNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7357782T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454463T>C , CM000679.2:g.7454463T>C GRCh38
NC_000017.10:g.7357782T>C , CM000679.1:g.7357782T>C GRCh37
NC_000017.9:g.7298506T>C NCBI36
NG_008026.1:g.14377T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.987T>C MANE Select ENSP00000304290.2:p.Val329=
ENST00000306071.6:c.987T>C ENSP00000304290.2:p.Val329=
ENST00000536404.6:c.771T>C ENSP00000439209.2:p.Val257=
ENST00000570557.5:c.650T>C
ENST00000573209.1:n.1931T>C
ENST00000576360.1:c.624T>C ENSP00000459092.1:p.Val208=
NM_000747.2:c.987T>C NP_000738.2:p.Val329=
NM_000747.3:c.987T>C MANE Select NP_000738.2:p.Val329=