Canonical Allele Identifier: CA172067353
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1022536636
gnomAD v2: 8-11349230-G-T
gnomAD v3: 8-11491721-G-T
gnomAD v4: 8-11491721-G-T
MyVariant Identifiers: chr8:g.11349230G>T (hg19) chr8:g.11491721G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491721G>T , CM000670.2:g.11491721G>T GRCh38
NC_000008.10:g.11349230G>T , CM000670.1:g.11349230G>T GRCh37
NC_000008.9:g.11386639G>T NCBI36
NG_023543.1:g.2710G>T
NG_023543.2:g.2710G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696154.2:n.274+4554G>T
ENST00000696154.1:c.-91+4554G>T ENSP00000512445.1:n.-91+4554G>T
ENST00000645242.1:c.-91+4554G>T ENSP00000494690.1:n.-91+4554G>T
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