Canonical Allele Identifier: CA579785200
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1217497716
gnomAD v2: 8-11349010-C-A
gnomAD v3: 8-11491501-C-A
gnomAD v4: 8-11491501-C-A
MyVariant Identifiers: chr8:g.11349010C>A (hg19) chr8:g.11491501C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491501C>A , CM000670.2:g.11491501C>A GRCh38
NC_000008.10:g.11349010C>A , CM000670.1:g.11349010C>A GRCh37
NC_000008.9:g.11386419C>A NCBI36
NG_023543.1:g.2490C>A
NG_023543.2:g.2490C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696154.2:n.274+4334C>A
ENST00000696154.1:c.-91+4334C>A ENSP00000512445.1:n.-91+4334C>A
ENST00000645242.1:c.-91+4334C>A ENSP00000494690.1:n.-91+4334C>A
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