Canonical Allele Identifier: CA172067224
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs545921065
gnomAD v3: 8-11491600-C-T
gnomAD v4: 8-11491600-C-T
MyVariant Identifiers: chr8:g.11349109C>T (hg19) chr8:g.11491600C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491600C>T , CM000670.2:g.11491600C>T GRCh38
NC_000008.10:g.11349109C>T , CM000670.1:g.11349109C>T GRCh37
NC_000008.9:g.11386518C>T NCBI36
NG_023543.1:g.2589C>T
NG_023543.2:g.2589C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4433C>T
ENST00000696154.1:c.-91+4433C>T ENSP00000512445.1:n.-91+4433C>T
ENST00000645242.1:c.-91+4433C>T ENSP00000494690.1:n.-91+4433C>T
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