Canonical Allele Identifier: CA624701939

Gene: CHRNB1

Linked Data

• dbSNP Id: rs1268159967
• gnomAD v2: 17-7357952-GCA-G
• gnomAD v3: 17-7454633-GCA-G
• gnomAD v4: 17-7454633-GCA-G
• MyVariant Identifiers: chr17:g.7357953_7357954del (hg19) ; chr17:g.7454634_7454635del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454636_7454637del , CM000679.2:g.7454636_7454637del	GRCh38
NC_000017.10:g.7357955_7357956del , CM000679.1:g.7357955_7357956del	GRCh37
NC_000017.9:g.7298679_7298680del	NCBI36
NG_008026.1:g.14550_14551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+116_1044+117del MANE Select	ENSP00000304290.2:n.1044+116_1044+117del
ENST00000306071.6:c.1044+116_1044+117del	ENSP00000304290.2:n.1044+116_1044+117del
ENST00000536404.6:c.828+116_828+117del	ENSP00000439209.2:n.828+116_828+117del
ENST00000570557.5:c.707+116_707+117del
ENST00000573209.1:n.1988+116_1988+117del
ENST00000576360.1:c.681+116_681+117del	ENSP00000459092.1:n.681+116_681+117del
NM_000747.2:c.1044+116_1044+117del	NP_000738.2:n.1044+116_1044+117del
NM_000747.3:c.1044+116_1044+117del MANE Select	NP_000738.2:n.1044+116_1044+117del