Canonical Allele Identifier: CA397797963

Gene: CHRNB1

Linked Data

• gnomAD v4: 17-7454410-C-A
• MyVariant Identifiers: chr17:g.7357729C>A (hg19) ; chr17:g.7454410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454410C>A , CM000679.2:g.7454410C>A	GRCh38
NC_000017.10:g.7357729C>A , CM000679.1:g.7357729C>A	GRCh37
NC_000017.9:g.7298453C>A	NCBI36
NG_008026.1:g.14324C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.934C>A MANE Select	ENSP00000304290.2:p.Leu312Ile
ENST00000306071.6:c.934C>A	ENSP00000304290.2:p.Leu312Ile
ENST00000536404.6:c.718C>A	ENSP00000439209.2:p.Leu240Ile
ENST00000570557.5:c.597C>A
ENST00000573209.1:n.1878C>A
ENST00000576360.1:c.605-34C>A	ENSP00000459092.1:n.605-34C>A
NM_000747.2:c.934C>A	NP_000738.2:p.Leu312Ile
NM_000747.3:c.934C>A MANE Select	NP_000738.2:p.Leu312Ile