Canonical Allele Identifier: CA342631151

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571764-C-T
• MyVariant Identifiers: chr1:g.154544240C>T (hg19) ; chr1:g.154571764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571764C>T , CM000663.2:g.154571764C>T	GRCh38
NC_000001.10:g.154544240C>T , CM000663.1:g.154544240C>T	GRCh37
NC_000001.9:g.152810864C>T	NCBI36
NG_008027.1:g.8984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.941C>T MANE Select	ENSP00000357461.3:p.Thr314Ile
ENST00000636034.1:c.941C>T	ENSP00000489703.1:p.Thr314Ile
ENST00000637900.1:c.947C>T	ENSP00000490474.1:p.Thr316Ile
ENST00000368476.3:c.941C>T	ENSP00000357461.3:p.Thr314Ile
NM_000748.2:c.941C>T	NP_000739.1:p.Thr314Ile
XM_017000180.2:c.431C>T	XP_016855669.1:p.Thr144Ile
XR_001736952.2:n.1193C>T
NM_000748.3:c.941C>T MANE Select	NP_000739.1:p.Thr314Ile