Canonical Allele Identifier: CA172067128
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs140453775
gnomAD v2: 8-11349004-C-T
gnomAD v3: 8-11491495-C-T
gnomAD v4: 8-11491495-C-T
MyVariant Identifiers: chr8:g.11349004C>T (hg19) chr8:g.11491495C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491495C>T , CM000670.2:g.11491495C>T GRCh38
NC_000008.10:g.11349004C>T , CM000670.1:g.11349004C>T GRCh37
NC_000008.9:g.11386413C>T NCBI36
NG_023543.1:g.2484C>T
NG_023543.2:g.2484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4328C>T
ENST00000696154.1:c.-91+4328C>T ENSP00000512445.1:n.-91+4328C>T
ENST00000645242.1:c.-91+4328C>T ENSP00000494690.1:n.-91+4328C>T
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