Canonical Allele Identifier: CA579785233
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1359368416
gnomAD v2: 8-11349175-A-G
gnomAD v3: 8-11491666-A-G
gnomAD v4: 8-11491666-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491666A>G , CM000670.2:g.11491666A>G GRCh38
NC_000008.10:g.11349175A>G , CM000670.1:g.11349175A>G GRCh37
NC_000008.9:g.11386584A>G NCBI36
NG_023543.1:g.2655A>G
NG_023543.2:g.2655A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4499A>G
ENST00000696154.1:c.-91+4499A>G ENSP00000512445.1:n.-91+4499A>G
ENST00000645242.1:c.-91+4499A>G ENSP00000494690.1:n.-91+4499A>G