Canonical Allele Identifier: CA16572822
Gene: BCL3 HGNC NCBI
COSMIC:
COSN6668930 (not active)
MyVariant.info:
GRCh38 chr19:g.44747899A>C
GRCh37 chr19:g.45251156A>C
gnomAD v2:
19:45251156 A / C
gnomAD v3:
19:44747899 A / C
gnomAD v4:
chr19-44747899-A-C
Joint Max Group AF 0.68980999 (AFR)
Genomes Max Group AF 0.68078193 (AFR)
Exomes Max Group AF 0.70214134 (AFR)
dbSNP:
2965169
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44747899A>C , CM000681.2:g.44747899A>C GRCh38
NC_000019.9:g.45251156A>C , CM000681.1:g.45251156A>C GRCh37
NC_000019.8:g.49942996A>C NCBI36
NG_052809.1:g.10279A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403534.7:n.195A>C
ENST00000487394.1:n.64A>C
XM_011527569.1:c.410A>C XP_011525871.1:p.Glu137Ala
XM_011527197.2:c.-71A>C XP_011525499.2:n.-71A>C
XM_011527198.3:c.341A>C XP_011525500.2:p.Glu114Ala
XM_017027109.1:c.-94A>C XP_016882598.1:n.-94A>C
XM_017027110.1:c.-94A>C XP_016882599.1:n.-94A>C
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