Canonical Allele Identifier: CA8347914
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs148217194
ExAC: 17:7357702 C / T
gnomAD v2: 17-7357702-C-T
gnomAD v4: 17-7454383-C-T
MyVariant Identifiers: chr17:g.7357702C>T (hg19) chr17:g.7454383C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454383C>T , CM000679.2:g.7454383C>T GRCh38
NC_000017.10:g.7357702C>T , CM000679.1:g.7357702C>T GRCh37
NC_000017.9:g.7298426C>T NCBI36
NG_008026.1:g.14297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.907C>T MANE Select ENSP00000304290.2:p.Leu303=
ENST00000306071.6:c.907C>T ENSP00000304290.2:p.Leu303=
ENST00000536404.6:c.691C>T ENSP00000439209.2:p.Leu231=
ENST00000570557.5:c.570C>T
ENST00000573209.1:n.1851C>T
ENST00000576360.1:c.605-61C>T ENSP00000459092.1:n.605-61C>T
NM_000747.2:c.907C>T NP_000738.2:p.Leu303=
NM_000747.3:c.907C>T MANE Select NP_000738.2:p.Leu303=
Search 100 bp 5'
Search 100 bp 3'