Canonical Allele Identifier: CA497744660

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357731C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454412C>T , CM000679.2:g.7454412C>T	GRCh38
NC_000017.10:g.7357731C>T , CM000679.1:g.7357731C>T	GRCh37
NC_000017.9:g.7298455C>T	NCBI36
NG_008026.1:g.14326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.936C>T MANE Select	ENSP00000304290.2:p.Leu312=
ENST00000306071.6:c.936C>T	ENSP00000304290.2:p.Leu312=
ENST00000536404.6:c.720C>T	ENSP00000439209.2:p.Leu240=
ENST00000570557.5:c.599C>T
ENST00000573209.1:n.1880C>T
ENST00000576360.1:c.605-32C>T	ENSP00000459092.1:n.605-32C>T
NM_000747.2:c.936C>T	NP_000738.2:p.Leu312=
NM_000747.3:c.936C>T MANE Select	NP_000738.2:p.Leu312=