Canonical Allele Identifier: CA1110720681
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1798175446
gnomAD v3: 8-11491615-C-G
gnomAD v4: 8-11491615-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491615C>G , CM000670.2:g.11491615C>G GRCh38
NC_000008.10:g.11349124C>G , CM000670.1:g.11349124C>G GRCh37
NC_000008.9:g.11386533C>G NCBI36
NG_023543.1:g.2604C>G
NG_023543.2:g.2604C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4448C>G
ENST00000696154.1:c.-91+4448C>G ENSP00000512445.1:n.-91+4448C>G
ENST00000645242.1:c.-91+4448C>G ENSP00000494690.1:n.-91+4448C>G
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