Canonical Allele Identifier: CA397798829

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357814A>T (hg19) ; chr17:g.7454495A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454495A>T , CM000679.2:g.7454495A>T	GRCh38
NC_000017.10:g.7357814A>T , CM000679.1:g.7357814A>T	GRCh37
NC_000017.9:g.7298538A>T	NCBI36
NG_008026.1:g.14409A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1019A>T MANE Select	ENSP00000304290.2:p.His340Leu
ENST00000306071.6:c.1019A>T	ENSP00000304290.2:p.His340Leu
ENST00000536404.6:c.803A>T	ENSP00000439209.2:p.His268Leu
ENST00000570557.5:c.682A>T
ENST00000573209.1:n.1963A>T
ENST00000576360.1:c.656A>T	ENSP00000459092.1:p.His219Leu
NM_000747.2:c.1019A>T	NP_000738.2:p.His340Leu
NM_000747.3:c.1019A>T MANE Select	NP_000738.2:p.His340Leu