Canonical Allele Identifier: CA397797750

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357714A>C (hg19) ; chr17:g.7454395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454395A>C , CM000679.2:g.7454395A>C	GRCh38
NC_000017.10:g.7357714A>C , CM000679.1:g.7357714A>C	GRCh37
NC_000017.9:g.7298438A>C	NCBI36
NG_008026.1:g.14309A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.919A>C MANE Select	ENSP00000304290.2:p.Ile307Leu
ENST00000306071.6:c.919A>C	ENSP00000304290.2:p.Ile307Leu
ENST00000536404.6:c.703A>C	ENSP00000439209.2:p.Ile235Leu
ENST00000570557.5:c.582A>C
ENST00000573209.1:n.1863A>C
ENST00000576360.1:c.605-49A>C	ENSP00000459092.1:n.605-49A>C
NM_000747.2:c.919A>C	NP_000738.2:p.Ile307Leu
NM_000747.3:c.919A>C MANE Select	NP_000738.2:p.Ile307Leu