Canonical Allele Identifier: CA497744713
Gene: CHRNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7357809C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454490C>T , CM000679.2:g.7454490C>T GRCh38
NC_000017.10:g.7357809C>T , CM000679.1:g.7357809C>T GRCh37
NC_000017.9:g.7298533C>T NCBI36
NG_008026.1:g.14404C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1014C>T MANE Select ENSP00000304290.2:p.His338=
ENST00000306071.6:c.1014C>T ENSP00000304290.2:p.His338=
ENST00000536404.6:c.798C>T ENSP00000439209.2:p.His266=
ENST00000570557.5:c.677C>T
ENST00000573209.1:n.1958C>T
ENST00000576360.1:c.651C>T ENSP00000459092.1:p.His217=
NM_000747.2:c.1014C>T NP_000738.2:p.His338=
NM_000747.3:c.1014C>T MANE Select NP_000738.2:p.His338=