Canonical Allele Identifier: CA1110720587
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1748997007
gnomAD v3: 8-11491453-C-T
gnomAD v4: 8-11491453-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491453C>T , CM000670.2:g.11491453C>T GRCh38
NC_000008.10:g.11348962C>T , CM000670.1:g.11348962C>T GRCh37
NC_000008.9:g.11386371C>T NCBI36
NG_023543.1:g.2442C>T
NG_023543.2:g.2442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4286C>T
ENST00000696154.1:c.-91+4286C>T ENSP00000512445.1:n.-91+4286C>T
ENST00000645242.1:c.-91+4286C>T ENSP00000494690.1:n.-91+4286C>T
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