Canonical Allele Identifier: CA2635846346

Gene: CHRNB1

Linked Data

• gnomAD v4: 17-7454648-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454648C>T , CM000679.2:g.7454648C>T	GRCh38
NC_000017.10:g.7357967C>T , CM000679.1:g.7357967C>T	GRCh37
NC_000017.9:g.7298691C>T	NCBI36
NG_008026.1:g.14562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+128C>T MANE Select	ENSP00000304290.2:n.1044+128C>T
ENST00000306071.6:c.1044+128C>T	ENSP00000304290.2:n.1044+128C>T
ENST00000536404.6:c.828+128C>T	ENSP00000439209.2:n.828+128C>T
ENST00000570557.5:c.707+128C>T
ENST00000573209.1:n.1988+128C>T
ENST00000576360.1:c.681+128C>T	ENSP00000459092.1:n.681+128C>T
NM_000747.2:c.1044+128C>T	NP_000738.2:n.1044+128C>T
NM_000747.3:c.1044+128C>T MANE Select	NP_000738.2:n.1044+128C>T