Canonical Allele Identifier: CA8347924
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1940991
ClinVar RCV Id: RCV002639621 RCV002658641
dbSNP Id: rs750396330
ExAC: 17:7357758 C / G
gnomAD v2: 17-7357758-C-G
gnomAD v3: 17-7454439-C-G
gnomAD v4: 17-7454439-C-G
MyVariant Identifiers: chr17:g.7357758C>G (hg19) chr17:g.7454439C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454439C>G , CM000679.2:g.7454439C>G GRCh38
NC_000017.10:g.7357758C>G , CM000679.1:g.7357758C>G GRCh37
NC_000017.9:g.7298482C>G NCBI36
NG_008026.1:g.14353C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.963C>G MANE Select ENSP00000304290.2:p.Phe321Leu
ENST00000306071.6:c.963C>G ENSP00000304290.2:p.Phe321Leu
ENST00000536404.6:c.747C>G ENSP00000439209.2:p.Phe249Leu
ENST00000570557.5:c.626C>G
ENST00000573209.1:n.1907C>G
ENST00000576360.1:c.605-5C>G ENSP00000459092.1:n.605-5C>G
NM_000747.2:c.963C>G NP_000738.2:p.Phe321Leu
NM_000747.3:c.963C>G MANE Select NP_000738.2:p.Phe321Leu
Search 100 bp 5'
Search 100 bp 3'