Canonical Allele Identifier: CA497744700
Gene: CHRNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7357791G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454472G>T , CM000679.2:g.7454472G>T GRCh38
NC_000017.10:g.7357791G>T , CM000679.1:g.7357791G>T GRCh37
NC_000017.9:g.7298515G>T NCBI36
NG_008026.1:g.14386G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.996G>T MANE Select ENSP00000304290.2:p.Leu332=
ENST00000306071.6:c.996G>T ENSP00000304290.2:p.Leu332=
ENST00000536404.6:c.780G>T ENSP00000439209.2:p.Leu260=
ENST00000570557.5:c.659G>T
ENST00000573209.1:n.1940G>T
ENST00000576360.1:c.633G>T ENSP00000459092.1:p.Leu211=
NM_000747.2:c.996G>T NP_000738.2:p.Leu332=
NM_000747.3:c.996G>T MANE Select NP_000738.2:p.Leu332=