Canonical Allele Identifier: CA397798180

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357751T>A (hg19) ; chr17:g.7454432T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454432T>A , CM000679.2:g.7454432T>A	GRCh38
NC_000017.10:g.7357751T>A , CM000679.1:g.7357751T>A	GRCh37
NC_000017.9:g.7298475T>A	NCBI36
NG_008026.1:g.14346T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.956T>A MANE Select	ENSP00000304290.2:p.Val319Asp
ENST00000306071.6:c.956T>A	ENSP00000304290.2:p.Val319Asp
ENST00000536404.6:c.740T>A	ENSP00000439209.2:p.Val247Asp
ENST00000570557.5:c.619T>A
ENST00000573209.1:n.1900T>A
ENST00000576360.1:c.605-12T>A	ENSP00000459092.1:n.605-12T>A
NM_000747.2:c.956T>A	NP_000738.2:p.Val319Asp
NM_000747.3:c.956T>A MANE Select	NP_000738.2:p.Val319Asp