Canonical Allele Identifier: CA12921798
Gene: BLK HGNC NCBI
COSMIC:
COSN6598107 (not active)
MyVariant.info:
GRCh38 chr8:g.11491677G>A
GRCh37 chr8:g.11349186G>A
gnomAD v2:
8:11349186 G / A
gnomAD v3:
8:11491677 G / A
gnomAD v4:
chr8-11491677-G-A
Joint Max Group AF 0.68494562 (EAS)
Genomes Max Group AF 0.68494562 (EAS)
dbSNP:
13277113
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491677G>A , CM000670.2:g.11491677G>A GRCh38
NC_000008.10:g.11349186G>A , CM000670.1:g.11349186G>A GRCh37
NC_000008.9:g.11386595G>A NCBI36
NG_023543.1:g.2666G>A
NG_023543.2:g.2666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4510G>A
ENST00000696154.1:c.-91+4510G>A ENSP00000512445.1:n.-91+4510G>A
ENST00000645242.1:c.-91+4510G>A ENSP00000494690.1:n.-91+4510G>A
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