Canonical Allele Identifier: CA774956897

Gene: CHRNB1

Linked Data

• ClinVar Variation Id: 725190
• ClinVar RCV Id: RCV001428712
• dbSNP Id: rs1311886791
• gnomAD v3: 17-7454522-TAAGA-T
• gnomAD v4: 17-7454522-TAAGA-T
• MyVariant Identifiers: chr17:g.7357842_7357845del (hg19) ; chr17:g.7454523_7454526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454527_7454530del , CM000679.2:g.7454527_7454530del	GRCh38
NC_000017.10:g.7357846_7357849del , CM000679.1:g.7357846_7357849del	GRCh37
NC_000017.9:g.7298570_7298573del	NCBI36
NG_008026.1:g.14441_14444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.1044+7_1044+10del MANE Select	ENSP00000304290.2:n.1044+7_1044+10del
ENST00000306071.6:c.1044+7_1044+10del	ENSP00000304290.2:n.1044+7_1044+10del
ENST00000536404.6:c.828+7_828+10del	ENSP00000439209.2:n.828+7_828+10del
ENST00000570557.5:c.707+7_707+10del
ENST00000573209.1:n.1988+7_1988+10del
ENST00000576360.1:c.681+7_681+10del	ENSP00000459092.1:n.681+7_681+10del
NM_000747.2:c.1044+7_1044+10del	NP_000738.2:n.1044+7_1044+10del
NM_000747.3:c.1044+7_1044+10del MANE Select	NP_000738.2:n.1044+7_1044+10del