Canonical Allele Identifier: CA397798542
Gene: CHRNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707891
ClinVar RCV Id: RCV002287052
MyVariant Identifiers: chr17:g.7357790T>C (hg19) chr17:g.7454471T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454471T>C , CM000679.2:g.7454471T>C GRCh38
NC_000017.10:g.7357790T>C , CM000679.1:g.7357790T>C GRCh37
NC_000017.9:g.7298514T>C NCBI36
NG_008026.1:g.14385T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.995T>C MANE Select ENSP00000304290.2:p.Leu332Pro
ENST00000306071.6:c.995T>C ENSP00000304290.2:p.Leu332Pro
ENST00000536404.6:c.779T>C ENSP00000439209.2:p.Leu260Pro
ENST00000570557.5:c.658T>C
ENST00000573209.1:n.1939T>C
ENST00000576360.1:c.632T>C ENSP00000459092.1:p.Leu211Pro
NM_000747.2:c.995T>C NP_000738.2:p.Leu332Pro
NM_000747.3:c.995T>C MANE Select NP_000738.2:p.Leu332Pro
Search 100 bp 5'
Search 100 bp 3'