Canonical Allele Identifier: CA397798102

Gene: CHRNB1

Linked Data

• gnomAD v4: 17-7454425-G-A
• MyVariant Identifiers: chr17:g.7357744G>A (hg19) ; chr17:g.7454425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454425G>A , CM000679.2:g.7454425G>A	GRCh38
NC_000017.10:g.7357744G>A , CM000679.1:g.7357744G>A	GRCh37
NC_000017.9:g.7298468G>A	NCBI36
NG_008026.1:g.14339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.949G>A MANE Select	ENSP00000304290.2:p.Val317Ile
ENST00000306071.6:c.949G>A	ENSP00000304290.2:p.Val317Ile
ENST00000536404.6:c.733G>A	ENSP00000439209.2:p.Val245Ile
ENST00000570557.5:c.612G>A
ENST00000573209.1:n.1893G>A
ENST00000576360.1:c.605-19G>A	ENSP00000459092.1:n.605-19G>A
NM_000747.2:c.949G>A	NP_000738.2:p.Val317Ile
NM_000747.3:c.949G>A MANE Select	NP_000738.2:p.Val317Ile