Canonical Allele Identifier: CA12836043
Gene: CHRNB3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.42697490G>A
GRCh37 chr8:g.42552633G>A
gnomAD v2:
8:42552633 G / A
gnomAD v3:
8:42697490 G / A
gnomAD v4:
chr8-42697490-G-A
Joint Max Group AF 0.82780834 (EAS)
Genomes Max Group AF 0.78579441 (EAS)
Exomes Max Group AF 0.83115487 (EAS)
dbSNP:
4950
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42697490G>A , CM000670.2:g.42697490G>A GRCh38
NC_000008.10:g.42552633G>A , CM000670.1:g.42552633G>A GRCh37
NC_000008.9:g.42671790G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.-57G>A MANE Select ENSP00000289957.2:n.-57G>A
ENST00000289957.2:c.-57G>A ENSP00000289957.2:n.-57G>A
ENST00000531610.5:n.115G>A
ENST00000534391.1:c.-412G>A ENSP00000433913.1:n.-412G>A
NM_000749.3:c.-57G>A NP_000740.1:n.-57G>A
XR_949716.1:n.919C>T
XR_949717.1:n.1617C>T
NM_000749.4:c.-57G>A NP_000740.1:n.-57G>A
NM_001347717.1:c.-412G>A NP_001334646.1:n.-412G>A
XR_001745886.1:n.1622C>T
XR_001745887.1:n.552C>T
NM_000749.5:c.-57G>A MANE Select NP_000740.1:n.-57G>A
NM_001347717.2:c.-412G>A NP_001334646.1:n.-412G>A
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