Canonical Allele Identifier: CA497744696
Gene: CHRNB1 HGNC NCBI

Linked Data

COSMIC: COSM460227
MyVariant Identifiers: chr17:g.7357785C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454466C>G , CM000679.2:g.7454466C>G GRCh38
NC_000017.10:g.7357785C>G , CM000679.1:g.7357785C>G GRCh37
NC_000017.9:g.7298509C>G NCBI36
NG_008026.1:g.14380C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.990C>G MANE Select ENSP00000304290.2:p.Leu330=
ENST00000306071.6:c.990C>G ENSP00000304290.2:p.Leu330=
ENST00000536404.6:c.774C>G ENSP00000439209.2:p.Leu258=
ENST00000570557.5:c.653C>G
ENST00000573209.1:n.1934C>G
ENST00000576360.1:c.627C>G ENSP00000459092.1:p.Leu209=
NM_000747.2:c.990C>G NP_000738.2:p.Leu330=
NM_000747.3:c.990C>G MANE Select NP_000738.2:p.Leu330=