Canonical Allele Identifier: CA397798130

Gene: CHRNB1

Linked Data

• MyVariant Identifiers: chr17:g.7357745T>C (hg19) ; chr17:g.7454426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454426T>C , CM000679.2:g.7454426T>C	GRCh38
NC_000017.10:g.7357745T>C , CM000679.1:g.7357745T>C	GRCh37
NC_000017.9:g.7298469T>C	NCBI36
NG_008026.1:g.14340T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.950T>C MANE Select	ENSP00000304290.2:p.Val317Ala
ENST00000306071.6:c.950T>C	ENSP00000304290.2:p.Val317Ala
ENST00000536404.6:c.734T>C	ENSP00000439209.2:p.Val245Ala
ENST00000570557.5:c.613T>C
ENST00000573209.1:n.1894T>C
ENST00000576360.1:c.605-18T>C	ENSP00000459092.1:n.605-18T>C
NM_000747.2:c.950T>C	NP_000738.2:p.Val317Ala
NM_000747.3:c.950T>C MANE Select	NP_000738.2:p.Val317Ala