Canonical Allele Identifier: CA774956902

Gene: CHRNB1

Linked Data

• dbSNP Id: rs1336842378
• MyVariant Identifiers: chr17:g.7357850_7357851del (hg19) ; chr17:g.7454531_7454532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454533_7454534del , CM000679.2:g.7454533_7454534del	GRCh38
NC_000017.10:g.7357852_7357853del , CM000679.1:g.7357852_7357853del	GRCh37
NC_000017.9:g.7298576_7298577del	NCBI36
NG_008026.1:g.14447_14448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+13_1044+14del MANE Select	ENSP00000304290.2:n.1044+13_1044+14del
ENST00000306071.6:c.1044+13_1044+14del	ENSP00000304290.2:n.1044+13_1044+14del
ENST00000536404.6:c.828+13_828+14del	ENSP00000439209.2:n.828+13_828+14del
ENST00000570557.5:c.707+13_707+14del
ENST00000573209.1:n.1988+13_1988+14del
ENST00000576360.1:c.681+13_681+14del	ENSP00000459092.1:n.681+13_681+14del
NM_000747.2:c.1044+13_1044+14del	NP_000738.2:n.1044+13_1044+14del
NM_000747.3:c.1044+13_1044+14del MANE Select	NP_000738.2:n.1044+13_1044+14del