Canonical Allele Identifier: CA397797690

Gene: CHRNB1

Linked Data

• gnomAD v4: 17-7454389-G-C
• MyVariant Identifiers: chr17:g.7357708G>C (hg19) ; chr17:g.7454389G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7454389G>C , CM000679.2:g.7454389G>C	GRCh38
NC_000017.10:g.7357708G>C , CM000679.1:g.7357708G>C	GRCh37
NC_000017.9:g.7298432G>C	NCBI36
NG_008026.1:g.14303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306071.7:c.913G>C MANE Select	ENSP00000304290.2:p.Val305Leu
ENST00000306071.6:c.913G>C	ENSP00000304290.2:p.Val305Leu
ENST00000536404.6:c.697G>C	ENSP00000439209.2:p.Val233Leu
ENST00000570557.5:c.576G>C
ENST00000573209.1:n.1857G>C
ENST00000576360.1:c.605-55G>C	ENSP00000459092.1:n.605-55G>C
NM_000747.2:c.913G>C	NP_000738.2:p.Val305Leu
NM_000747.3:c.913G>C MANE Select	NP_000738.2:p.Val305Leu