Canonical Allele Identifier: CA128075
Gene: CHRNB1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.7454329C>A
GRCh37 chr17:g.7357648C>A
Revel Score:
ENST00000306071 (MANE Select) 0.800
ENST00000536404 0.800
ClinVar RCV:
RCV000020041
ClinVar Variation:
18373
dbSNP:
137852811
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454329C>A , CM000679.2:g.7454329C>A GRCh38
NC_000017.10:g.7357648C>A , CM000679.1:g.7357648C>A GRCh37
NC_000017.9:g.7298372C>A NCBI36
NG_008026.1:g.14243C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.853C>A MANE Select ENSP00000304290.2:p.Leu285Met
ENST00000306071.6:c.853C>A ENSP00000304290.2:p.Leu285Met
ENST00000536404.6:c.637C>A ENSP00000439209.2:p.Leu213Met
ENST00000570557.5:c.516C>A
ENST00000573209.1:n.1797C>A
ENST00000576360.1:c.605-115C>A ENSP00000459092.1:n.605-115C>A
NM_000747.2:c.853C>A NP_000738.2:p.Leu285Met
NM_000747.3:c.853C>A MANE Select NP_000738.2:p.Leu285Met
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