Canonical Allele Identifier: CA8347916
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs759057934
ExAC: 17:7357719 T / C
gnomAD v2: 17-7357719-T-C
gnomAD v3: 17-7454400-T-C
gnomAD v4: 17-7454400-T-C
MyVariant Identifiers: chr17:g.7357719T>C (hg19) chr17:g.7454400T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454400T>C , CM000679.2:g.7454400T>C GRCh38
NC_000017.10:g.7357719T>C , CM000679.1:g.7357719T>C GRCh37
NC_000017.9:g.7298443T>C NCBI36
NG_008026.1:g.14314T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.924T>C MANE Select ENSP00000304290.2:p.Ile308=
ENST00000306071.6:c.924T>C ENSP00000304290.2:p.Ile308=
ENST00000536404.6:c.708T>C ENSP00000439209.2:p.Ile236=
ENST00000570557.5:c.587T>C
ENST00000573209.1:n.1868T>C
ENST00000576360.1:c.605-44T>C ENSP00000459092.1:n.605-44T>C
NM_000747.2:c.924T>C NP_000738.2:p.Ile308=
NM_000747.3:c.924T>C MANE Select NP_000738.2:p.Ile308=
Search 100 bp 5'
Search 100 bp 3'