Canonical Allele Identifier: CA8347948
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs578007406
ExAC: 17:7357874 C / G
gnomAD v2: 17-7357874-C-G
gnomAD v3: 17-7454555-C-G
gnomAD v4: 17-7454555-C-G
MyVariant Identifiers: chr17:g.7357874C>G (hg19) chr17:g.7454555C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454555C>G , CM000679.2:g.7454555C>G GRCh38
NC_000017.10:g.7357874C>G , CM000679.1:g.7357874C>G GRCh37
NC_000017.9:g.7298598C>G NCBI36
NG_008026.1:g.14469C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+35C>G MANE Select ENSP00000304290.2:n.1044+35C>G
ENST00000306071.6:c.1044+35C>G ENSP00000304290.2:n.1044+35C>G
ENST00000536404.6:c.828+35C>G ENSP00000439209.2:n.828+35C>G
ENST00000570557.5:c.707+35C>G
ENST00000573209.1:n.1988+35C>G
ENST00000576360.1:c.681+35C>G ENSP00000459092.1:n.681+35C>G
NM_000747.2:c.1044+35C>G NP_000738.2:n.1044+35C>G
NM_000747.3:c.1044+35C>G MANE Select NP_000738.2:n.1044+35C>G
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