Canonical Allele Identifier: CA397798082

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357741A>C (hg19) ; chr17:g.7454422A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454422A>C , CM000679.2:g.7454422A>C	GRCh38
NC_000017.10:g.7357741A>C , CM000679.1:g.7357741A>C	GRCh37
NC_000017.9:g.7298465A>C	NCBI36
NG_008026.1:g.14336A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.946A>C MANE Select	ENSP00000304290.2:p.Met316Leu
ENST00000306071.6:c.946A>C	ENSP00000304290.2:p.Met316Leu
ENST00000536404.6:c.730A>C	ENSP00000439209.2:p.Met244Leu
ENST00000570557.5:c.609A>C
ENST00000573209.1:n.1890A>C
ENST00000576360.1:c.605-22A>C	ENSP00000459092.1:n.605-22A>C
NM_000747.2:c.946A>C	NP_000738.2:p.Met316Leu
NM_000747.3:c.946A>C MANE Select	NP_000738.2:p.Met316Leu